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BIOINFORMATICS
      at a glance
Foundation Partners
                                                    Contents
                                                    2	      About QFAB                        17 	 Tools & Platforms
                                                    3 	 QFAB Solutions                        	   -	 mixOmics
                                                    4	      QFAB Governance                   	   -	 Systems Biology Platform

Collaborators                                       6 	 Testimonials
                                                    8 	 QFAB Team
                                                                                              	
                                                                                              	
                                                                                                  -	 Chemi-Biology Platform
                                                                                                  -	 Genomics Virtual Laboratory
                                                    10	 QFAB Service                          	   -	 NCI-SF
IMB – Institute for Molecular Bioscience                	   - 	Next Generation Sequencing     	   -	 Embl Australia
EMBL Australia Bioinformatics Resource              	       - 	Genotyping Data                18 	 Case Studies
                                                    	       -	 Microarray Data                	   - 	Featured project:
Genomics Virtual Laboratory – Nectar
                                                    	       -	 Integrated Systems Biology     		 The embedded bioinformatician -
Australian e-Health Research Centre
                                                    	       -	 Mass Spectrometry Data         		 QFAB research collaboration	
ARC Centre of Excellence in Bioinformatics          	       -	Cheminformatics                 	   - 	Southern Cross Univerity -
NCI-Specialised Facility in Bioinformatics          	       -	Biostatistics                   		 Science Bioinformatics Support
                                                                                               Plant
Intersect Australia Ltd                             	       -	 Software and Web Development   	   - 	Glycoselect statistical pipeline

QCIF – Queensland Cyber Infrastructure Foundation   	       -	 High Performance Computing     	   - 	ArachnoServer, the world’s
                                                    	       -	Consulting                      		 first manually curatable resource for
Wound Management Innovation CRC
                                                    	       -	Training                        		 protein spider toxins
The University of Auckland
                                                                                              	   - 	EBI – Making Australian
Université de Toulouse                                                                        		 Data Discoverable
PROOF Centre of Excellence, Canada                                                            28	 Publications

                                                                                                                                        1
QFAB Solutions
Mr Jeremy Barker
Chief Executive
Officer                                                                                                                         QFAB provides scalable and open solutions which enable          experience and our broad suite of open source and
                                                                                                                                scientists to extract the greatest value from their research    commercial software and computational systems.
                                                                                                                                data, across a variety of applications, technologies, and       Flexible, rapid and researcher oriented, QFAB has built a


About QFAB
                                                                                                                                industries.                                                     reputation for supporting the production of high quality
                                                                                                                                QFAB can work on specific projects, provide time against        outcomes which deliver those high impact publications
                                                                                                                                an ongoing need or become embedded in your                      or patents faster.
                                                                                                                                organisation. Our solution will draw on the entire team’s

What we do                                                   Who we do it for
However you define bioinformatics, as broadly or narrowly    Life science scientists are our clients. With a focus on
as you wish, it fundamentally enables the modern             client success, our skilled and expert team understands
day researcher to handle and analyse large and complex       the biological question. We can help you define the
data – the big data challenge - an essential part of         appropriate bioinformatics and biostatistics approach
understanding biology.                                       and apply the correct analyses to deliver on your project.
Established in 2007, QFAB focuses on delivering robust,      By unlocking the full value of your data, QFAB has
high quality and relevant bioinformatics services for life   become a leading provider of bioinformatics services
science researchers to analyse and manage large-scale        to industry, clinical, applied and academic life science
datasets.                                                    researchers, including the biotechnology, pharmaceutical,
We offer our clients a range of professional services        clinical and research communities.
– from contract research, project design and analysis,       We operate nationally and internationally with a
                                                                                                                                  Technologies                             Applications                             Industries
scientific software development, to designing, deploying     commitment to continuous engagement throughout                       We support evolving                      We design applications to                We work with researchers
and refining the high performance IT infrastructure          the project.                                                         technologies used by life                support:                                 across a number of industries:
that is required to support life science informatics.                                                                             science researchers including:
Our support ranges from experimental design, data            What we stand for
capture and mining through to NGS, proteomic                                                                                      - Pathology/clinical data                - Molecular biology research             - Academic research
                                                             Our highly experienced and skilled team is the foundation
and metabolomic analyses. We are also expert in                                                                                                                            - Biomarker discovery                    - Healthcare
                                                             of our success. As a team, we are committed to operating             - Next generation sequencing: 	
cross-domain integration with clinical data.
                                                             ethically, with integrity and respect at all times. We believe       	 Roche 454 GS-FLX, Illumina 	           - Crop science and livestock             - Pharma R&D
QFAB’s training division provides integrated workshops       that open communication, flexibility and honesty are the             	 HiSeq, LifeTechnologies Solid, 	
through to customised solutions in all facets of                                                                                                                           - Biodiversity                           - Clinical research
                                                             keys to successful customer engagement.                              	 Ion Torrent data
bioinformatics.                                                                                                                                                            - Molecular diagnosis                    - Biotechnologies
                                                             Early engagement means we can take the time to understand            - Genotyping:
We have a strong track record of delivering results which    your goals and help derive the most efficient and                                                             - Drug discovery                         - Food industry
                                                                                                                                  	 ABI-LifeTechnologies, Illumina, 	
are grounded in the team’s commitment to continuous          cost-effective bioinformatics solutions, while the international     	 Affymetrix, Agilent                    - Translational research                 - Environment
learning and innovation, ensuring that our clients can       experience brought to projects by our team members
trust in the knowledge and integrity of our support.                                                                              - Microarrays                            - Epidemiology                           - Biodiversity
                                                             ensures the application of the relevant tools to the right
                                                             data to answer your particular questions.                            - Mass spectrometry:                     - Pathway analysis                       - Energy
                                                             We are the research data specialists: responsive,                    	 SELDI, MALDI, iTRACK                   - Clinical trials                        - Agricultural R&D
                                                             professional, secure and quality focused.

2                                                                                                                                                                                                                                                       3
QFAB Specialist Advisory Group
                                                                                                                         Dr Rhys Francis         Dr Gregory Harper        Dr Tim Littlejohn       Warren Parker             Dr Nadia Rosenthal
                                                                                                                         Executive Director,     Director,                New Employee            CEO,                      Director,
                                                                                                                         Australian              External                 Learning Lead,          Scion,                    Australian
                                                                                                                         eResearch               Engagement,              diversity,              New Zealand               Regenerative
                                                                                                                         Infrastructure          CSIRO                    life sciences,          Forest Research           Medicine Institute
                                                                                                                         Council                                          IBM                     Institute,
                                                                                                                                                                                                  New Zealand




QFAB Governance
Mr Peter Turnbull                        seven management and advisory         Chemistry and Computer Science            Infectious Disease Research Program      tradition of the Berkeley L0 project,    Dr Andrew Lewis
                                         boards in molecular bioscience,       and a PhD in Theoretical Chemistry        at IHBI, which forms part of IHBI’s      where he contributed a connectionist
Chairman                                                                                                                                                                                                   Griffith University
                                         informatics and e-Research.           at the Australian National University.    Cells and Tissue Domain. Ken was         synthesis of bottom-up and
Peter is a company director and          He has more than 160 peer-reviewed                                              appointed to the role of IHBI Deputy     top-down attentional systems as a        Andrew is a Senior Research Specialist
corporate lawyer. Peter’s business                                                                                                                                                                         in eResearch Services at Griffith
interests span many East Asian
                                         publications and research interests   Dr Wayne Jorgensen                        Director in 2010. He has worked in       model of spatial relations acquisition
                                                                                                                                                                                                           University. Andrew’s research expertise
                                         that include comparative,                                                       the area of mucosal immunology for       and processing. Jim also leads
markets, Europe and the United                                                 Queensland Government                                                                                                       includes parallel optimisation
                                         computational and evolutionary                                                  the past 25 years at the University of   development of software
States. He is currently the Chairman     genomics, high-throughput             Wayne has over 25 years of research       Alabama at Birmingham (UAB) and          internationalisation work within         algorithms for large numerical
or a Director of various private and     bioinformatics, high-performance      experience in parasitology. Wayne         the University of Newcastle prior        Australia.                               simulations, including bio-inspired
unlisted public companies and is a       computing, and technologies for       has published over 70 research            to moving to QUT. Ken’s current                                                   algorithms (particle swarm, ant colony,
former Director of the Securities and                                          papers in refereed, international                                                                                           spatial social networks, evolutionary
Futures Commission of Hong Kong.
                                         management and integration of
                                                                               journals and over 70 conference
                                                                                                                         research interests focus on immunity     Mr Jeremy Barker                         programming and extremal
                                         large datasets.                                                                 to sexually transmitted infections,
Peter has particular expertise in the                                          papers at national and international                                               QFAB                                     optimisation), direct search algorithms
                                                                                                                         in particular Chlamydia trachomatis.
commercialisation of new technologies,                                         conferences. He has written chapters                                               Jeremy is the founding CEO of QFAB       (simplex and pattern search methods)
strategic planning, and complex
                                         Dr David Hansen                       on tick-borne diseases for the Office
                                                                                                                         His research aims to define and
                                                                                                                                                                  (Queensland Facility for Advanced        and gradient descent (quasi-Newton
                                                                                                                         differentiate the immune parameters
legal, commercial and corporate          CSIRO                                 International des Epizooties,                                                      Bioinformatics) which he joined          with BFGS update). He specialises
                                                                                                                         of immune-mediated inflammatory
governance transactions and alternate    David is CEO of the Australian        International Livestock Research          pathology caused by Chlamydia            full time in June 2007. Jeremy is        in multi-objective optimisation
dispute resolution strategies. He is a   e-Health Research Centre. David       Institute, Food and Agriculture           infection from the immune                responsible for the overall              techniques for engineering design,
recent past-President, and Chairman      leads the research programs of the    Organization of the United Nations,       mechanisms that can protect against      management of QFAB. He holds             including the application of a variety
of Chartered Secretaries Australia,      AeHRC, a joint venture between        Parasitology Journal, and Merck.          chlamydial infection to developing       postgraduate qualifications in           of algorithms to complex problems,
and is a Fellow of the Australian        CSIRO and the Queensland              He is co-editor for Babesiosis in the     effective chlamydial vaccines.           science, commerce and governance         methods of interactive optimisation,
Institute of Company Directors.          Government. Prior to joining CSIRO,   International Consortium for Tick                                                  and has over 20 years of experience      automated preference selection in
                                         David led development of the          and Tick-borne Diseases Journal and                                                in the management of life science        Pareto-optimal sets, extension to
                                                                                                                         Associate Professor
Professor Mark Ragan                     Sequence Retrieval System (SRS) at    developed two international patents
                                                                                                                         James Hogan
                                                                                                                                                                  organisations including a number of      many-objective and dynamic
                                         LION Bioscience Ltd in Cambridge,     on poultry coccidiosis vaccines.                                                   Board positions for biotechnology        environments, and the development
IMB                                                                                                                      QUT
                                         UK. SRS is the leading genomic data   In 2008 Wayne received the Australia                                               companies. In 2007, Jeremy was           of automated, problem-solving
Mark is the founding head of the         and tool integration software, and    Day award for contribution to                                                      awarded a Churchill Fellowship to        frameworks. He also has expertise in
                                                                                                                         Jim is an Associate Professor in the
Division of Genomics and                 is used by pharmaceutical and         Queensland’s Primary Industries.                                                   undertake an international study         parallel, distributed and grid computing
                                                                                                                         Electrical Engineering and Computer
Computational Biology at the             biotechnology companies, such as                                                                                         on ‘Management Best Practice in          methods, including cluster-based, ad
                                                                                                                         Science Faculty at QUT. His research
Institute for Molecular Bioscience of
The University of Queensland, and
                                         Glaxo Kline-Smith, Celera and         Professor Ken Beagly                      interests include machine learning       the Delivery of Bioinformatics to        hoc grid, distributed, peer-to-peer
                                         Affymetrix, as well as academic                                                 and its application to cognitive         Researchers’. He is a member of          systems and cloud computing; and
Director of the Australian Research                                            IHBI
                                         institutes, including The European                                              science, and bioinformatics problems     the Australian Institute of Company      advanced visualisation techniques for
Council Centre of Excellence in          Bioinformatics Institute. David       Ken is Deputy Director, Institute of                                               Directors.                               scientific data analysis.
                                                                                                                         and software engineering. Jim’s work
Bioinformatics. Mark is a Fellow of      undertook a Bachelor of Science at    Health and Biomedical Innovation
                                                                                                                         is concerned with learning in visual
the Linnean Society of London, and       the University of Queensland in       (IHBI). He is a Professor of Immunology
                                                                                                                         domains with associated text, in the
serves on six editorial boards and                                             at QUT and the leader of the

4                                                                                                                                                                                                                                                5
The embedded
                                                                                                                                                            bioinformatician
                                                                                                                             “QFAB has assigned a successionof its research students
                                                                                                                            and staff to work with our biologists and protein chemists,
                                                                                                                             helping to design experiments and to interpret the data.
                                                                                                                            As we were doing our research, QFAB was building up a
                                                                                                                                   pool of expertise in wound-healing bioinformatics.”
                                                                                                                                                                            Professor Zee Upton




Testimonials
QFAB’s expertise in experimental design and analysis can be applied                                                                                               Professor Zee Upton
at any scale, from a simple microarray comparison of differential                                                                                      Wound Management Innovation
gene expression, to a full-blown systems biology analysis integrating                                                                                     Cooperative Research Centre
genomic, proteomic, metabolomic and clinical data.                                                                                                 The Co-Program Leader of the Enabling
                                                                                                                                                Technologies Program in the Wound CRC,
                                                                                                                                                                        Professor Zee Upton,
                                                                                                                                                          now Assistant Dean of Science at
Professor Glenn King                                          Dr Roslyn Brandon                                                                      Queensland University of Technology,
Institute of Molecular Bioscience,                            Co-Founder, President and CEO                                                       says it was clear from the outset that the
The University of Queensland                                  of Immunexpress (IXP)                                                           CRC was going to need high-order capabilities
“QFAB has collaborated with us over a number of years         “Since an initial collaborative project in 2010, IXP has                         in bioinformatics to make sense of the huge
to build a world-first spider toxin database that allows us   significantly increased its work with QFAB as a contract                         volumes of DNA, SNP and proteomics data
to combine data from publicly available databases including   supplier of bioinformatics services. QFAB undertakes IXP’s
                                                                                                                                                                   flowing from its research.
mRNA and protein sequences, 3D structures, and                genomics multivariate data analytical work – a critical
functional information for hundreds of venom proteins.        foundation for the development of our novel clinical                               In previous projects the bioinformaticians
In our most recent project, QFAB worked with us to add        diagnostic products. IXP is leading the world in applying                             were not physically co-located with the
a number of new features to the database, including a         its patented immune system blood biomarkers to improving
toxin mass calculator, taxonomic target search, and           the management of sepsis patients and those at risk of
                                                                                                                                                   biological scientist generating the data.
mechanisms to control the privacy of records. QFAB’s          sepsis. Sepsis is a life-threatening immune response                                    “That didn’t work as well as we hoped,”
innovative approach and responsiveness has been               to infection and is a leading cause of death in Intensive                                                  Professor Upton said.
essential to the success of this project. I am happy to       Care Units. QFAB works very effectively with our team
endorse QFAB as a provider of highly effective research       to produce results time effectively and cost efficiently.                             “We found we needed a bioinformatician
data management solutions.”                                   The QFAB project team is a mainstay for our business as our                                 with specific expertise in handling
                                                              product development processes rely heavily on world-class                                              wound-healing data, so
                                                              informatics. We have been very pleased with the quality
                                                              and responsiveness of QFAB, and I am delighted to provide                                 QFAB placed one of its researchers
                                                              this testimonial for their client services.”                                                in the CRC for two days a week.”
6                                                                                                                                                                                             7
QFAB Team

Senior
Management Team
                              Mr Jeremy Barker               Dr Dominique Gorse
                              Chief Executive Officer        General Manager




                                                                                              “QFAB is a vibrant and dynamic workplace, reflecting the variety of
                                                                                              projects that attracted me to QFAB initially. I enjoy the challenge of
                                                                                              working for an organisation that is at the cutting edge of bioinformatics
    Ms Mathilde Desselle      Dr Mark Crowe                  Dr Stephen Rudd                  and the satisfaction gained from liberating more knowledge or productivity
    Business Development &    Training & Outreach Manager    Head of Computational            for the customer by applying advanced bioinformatic solutions.”
    Marketing Manager                                        Biology
                                                                                                                                                       Dr Leo McHugh




Computational Biology                                                                         Data Specialists
                              Dr Kim-Anh Lê Cao              Ms Roxane Legaie                                               Dr Jeremy Parsons       Ms Sarah Williams
                              Biostatistician                Bioinformatician                                               Bioinformatician        Bioinformatician




    Dr Xin-Yi Chua            Ms Amanda Miotto               Dr Leo McHugh                         Mr Pierre Chaumeil       Ms Anne Kunert          Mr Nick Rhodes
    Senior Bioinformatician   eResearch Support Specialist   Senior Computational Biologist        Bioinformatician         Bioinformatician        Database and Systems
                                                                                                                                                    Administrator

8                                                                                                                                                                          9
QFAB Services
QFAB is the research data specialist. We support the bioinformatics requirements of
research-intensive universities, institutions and companies and provide secure access to
very large databases, dedicated softwares, high-performance computing, terabyte storage,
data integration technologies and advanced bioinformatics services.
We pride ourselves in developing tailored, relevant bioinformatics solutions to meet
research needs to:
> 	 Provide scalable infrastructure to meet future growth   > 	 Enable reasoning across data sources
> 	 Enable collaboration between scientists within          > 	 Develop workflows for easy and efficient data
	 disparate research areas                                  	 processing, analysis and visualisation.




Our services include:


                                                            Next Generation Sequencing                                     Genomic capture                                                > 	Adjustments of interpretation settings
                                                                                                                           > 	Mutation and variant detection                              > 	Taxonomic trees
                                                            Unlock the full value of your next-generation
                                                            sequencing (NGS) data sets from Illumina                       > 	Identification and positioning of known and unknown 	       > 	Samples comparison
                                                                                                                           	mutations                                                     RNAseq and microRNA
                                                            HiSeq, Roche 454 GS-FLX and LifeTechnologies
                                                                                                                           > 	Transcription: Influence of the mutation on the protein 	
                                                            Solid and Ion Torrent platforms.                                                                                              RNAseq
                                                                                                                           	functionality
                                                            QFAB provides tailored bioinformatics services to biologists                                                                  > Changes in expression
                                                            across the spectrum of computational techniques and            ChipSeq
                                                                                                                                                                                          > Detection of novel splice isoforms or transcripts
                                                            services applicable to molecular biology and next generation   > 	Mapping and genes identification
                                                            sequencing. QFAB researchers design and implement                                                                             > De novo transcriptome assembly
                                                                                                                           > 	Comparison if samples regulated by the same
                                                            custom bioinformatics approaches that are developed in         	 transcription factor                                         > Mutation detection
                                                            consultation with researchers for specific questions in                                                                       Annotation pipeline
                                                            molecular biology. We can also integrate your genomics         Exome
                                                            data with other omics and clinical datasets.                   > 	Listing of identified mutations between the study           > 	Prediction of coding regions
                                                            Our NGS data analysis services include:                        	 samples and the reference: SNPs, InDels                      > 	Annotation of coding genes, non-coding RNA, tRNA, 	
                                                                                                                                                                                          	 rRNA, miRNA…
                                                            De Novo or reference genome assembly and 		                    > 	Identification of known mutations by comparing the 	
                                                            annotation                                                     	 results to international databases                           > 	Repeat identification
                                                            > 	Assembly and mapping                                        > 	Influence of the mutation on the protein functionality      > 	Statistics of annotation and analysis of GC content
                                                            > 	Structural and functional annotation of the genome          Metagenomics
                                                            	 (ORF detection, assignment of genes,…)                       > 	Creation of reference database and alignment for or	
                                                            > 	Samples comparison                                          	 ganisms identification



10                                                                                                                                                                                                                                                 11
Integrated Systems Biology
                                                               QFAB supports systems biology research across
                                                               the spectrum of interdisciplinary techniques.
                                                               QFAB researchers work with biologists to define the nature
                                                               of the biological systems under investigation in specific
                                                               research projects. We develop or customise approaches for
                                                               understanding these systems, or inferring the properties of
                                                               such systems from high-throughput data sets:
                                                               > 	Integration and simultaneous analysis of multiple omics 	
                                                               	 or clinical datasets
                                                               > 	Pathway and network analysis
                                                               > 	Enrichment analysis
                                                               > 	Gene regulation studies
                                                               >	 Visualisation (correlations, networks, genome browsers).


     Genotyping Data                                           Mass Spectrometry Data
     We can provide data filtering and genotype                QFAB provides mass spectrometry data
     calling, as well as integration of your                   analysis, from design to protein identification,
     genotyping datasets into data management,                 annotation of secondary modifications, and
     visualisation, pathways network-based                     determination of the absolute or relative
     analysis or development of molecular                      abundance of individual proteins.
     diagnostic chip/IVD device.                               > 	Design
     QFAB researchers design and implement custom              > 	Picks detection and protein identification
     bioinformatics approaches that are developed in           > 	Annotation
     consultation with researchers for specific questions in
                                                               > 	Quantitative analysis
     molecular biology:
                                                               > 	Interpretation
     > 	SNP genotyping data
                                                               We support data from most of the existing mass
     > 	Microsatellites / minisatellites genotyping data
                                                               spectrometry platforms.
     > 	Genotyping by Sequencing data
     We support data from most of the existing genotyping
     and sequencing platforms.                                 Cheminformatics
                                                               QFAB supports drug discovery projects with
     Microarrays Data                                          SAR analysis and SAR development using
                                                               cheminformatics approaches.
     QFAB offers a wide range of statistical and
                                                               > 	Prioritisation of compounds and assays
     bioinformatic analyses of microarray data,                	 (Efficacy, Toxicity, ADME)
     ranging from design and quality control to
                                                               > 	Provide databases and tools for compound 		
     samples comparison.                                       	 registration and inventory
     > 	Design                                                 > 	HTS data handling, mining and reporting
     > 	Quality control                                        > 	Design of compound libraries
     > 	Normalisation                                          	 (diverse, focused or targeted)
     > 	Quantification: gene expression, exon level,           > 	Combinatorial library design and library
     	 copy number                                             	enumeration
     > 	Differential samples comparison, and                   > 	Undesirable molecule elimination
     	 comparison with public datasets                         > 	Hit-to-lead optimization
     > 	Combination and integration with other data.           > 	ADME and toxicity profiling.



12                                                                                                                     13
Biostatistics                                                   High Performance Computing
     QFAB provides expert biostatistical services to                 Mr Nick Rhodes
     support the design of biological experiments,                   Database and Systems Administrator
     biomarker identification, collection and                        QFAB’s HPC services include:
     analysis of data from experiments, and the
                                                                     > 	Hardware access / infrastructure
     interpretation of that data.
                                                                     > 	Cluster computing
     QFAB provides tailored data mining services to researchers
     who want to get more from their datasets. By creating           > 	Cloud computing
     customised data mining solutions, QFAB can assist researchers   > 	High memory servers.
     to get more from their existing data sets. By consulting with
     QFAB early, QFAB research staff can also provide detailed
     advice on the best methods for data capture, annotation         Consulting
     and storage to maximise the benefits likely to result from      Dr Dominique Gorse
     the application of data mining techniques.                      General Manager
     Our biostatistical services include:                            Discuss with us the design of your research project,
     > 	Combination and integration of multiple                      and evaluate bioinformatics analysis and support to be
     	 datasets types                                                incorporated in your grant proposal. QFAB answers your
     > 	Univariate and multivariate analysis                         consulting need on a project basis, on a regular basis
     > 	Power calculation                                            (number of days/ week-month-year), as well as through
                                                                     embedded staff model.
     > 	Classification
                                                                     QFAB can help scientists with access to the
     We undertake collaborations in clinical research informatics
                                                                     bioinformatics tools and the computational capability
     and research IT services with a growing number of clinical
                                                                     needed to meet the challenges of visualising disparate
     and translational research investigators.
                                                                     datasets which may use different or no ontologies and,
                                                                     at the social and regulatory levels, the need to maintain
                                                                     patient confidentiality through compliance with clinical
                                                                     records privacy laws. Building on our strengths in
                                                                     understanding and translating the needs of the researcher
                                                                     into the language of the bioinformatician and IT
                                                                     professional, QFAB can work closely with your research
                                                                     team to address both the data management and
     Software and Web Development                                    bioinformatic aspects of your translational research project.
     Research computing resources offered by
     QFAB enable the visualisation and analysis of
     large biological data sets and to address                       Training
     complex biological problems.                                    Dr Mark Crowe
     QFAB develops custom software tools, data management            Training & Outreach Manager
     systems and web interface for life sciences researchers.        QFAB understands the biological question and can help
     We support large collaborative research projects where the      you unlock the answers from your data through our
     member groups are based in different locations. We develop      specialised training programs. We provide a range of
     online tools for project participants to securely store their   flexible modules, courses and workshops designed to suit
     own data, access other members’ data and allow real-time        your needs – ranging from introductory project-focused
     communication between collaborative group members.              courses to advanced bioinformatics. Our goal is to
     Our ICT services include:                                       improve knowledge diffusion between experimental
     > 	Database development                                         biologists and bioinformaticians, that is, increase the
                                                                     interaction between developers and users.
     > 	Web interface to biological databases
                                                                     Contact QFAB for details of how QFAB can meet your
     > 	Data analysis web applications.
                                                                     training needs.


                                                                     For more information on QFAB services, contact us:
                                                                     www.qfab.org

14                                                                                                                              15
Tools & Platforms
QFAB has a core team of software engineers                     Industry Collaboration
and biologists who work together to help                       QFAB provides technical collaboration for:
describe, formulate and build applications
                                                               	 Embl Australia Bioinformatics Resource
to analyse and manage your research data.
Our unique tools and platforms include:                        	   An online data resource replicating important
                                                               	   components of the data and data services provided
MixOmics                                                       	   by the European Bioinformatics Institute (EBI) -
The integration of multiple ‘omics’ analyses enables a         	   to provide Australian scientists with faster access
better understanding of a biological system as a whole.        	   to EBI datasets and expanded collections of
QFAB’s mixOmics product is an R package dedicated              	   Australian data.
to the exploration and the integration of highly dimensional   	 http://www.ebi.edu.au/
data sets. MixOmics provides a strong focus on graphical
representation, to better understand the relationships
between the different types of data and to visualize the       	 Genomics Virtual Laboratory (GVL)
correlation structure between different measured entities.

Systems Biology Platform                                       	   The GVL provides Australian researchers with a
                                                               	   community of accessible infrastructure, expertise 		
Analysis of complex molecular networks which control
                                                               	   and advocacy that connects genome researchers 		
biological processes requires an integrated, highly capable
                                                               	   with massive datasets, sophisticated analysis tools, 	
bioinformatics platform. QFAB has developed a scalable
                                                               	   and large-scale computational infrastructure.
computational environment to analyse, model and infer
biomolecular networks. Our platform is unique in Australia,    	 https://www.nectar.org.au/genomics-virtual-laboratory
with high-performance hardware and an integrated suite
of commercial software linked to curated datasets.
                                                               	 NCI-SF in Bioinformatics
Chemi-Biology Platform
QFAB’s chemi-biology computational platform brings             	 The National Computational Infrastructure,
together complementary expertise in infectious disease         	 Specialised Facility (NCI-SF) portal provides
research and advanced computational methods to                 	 information on the hardware, software and services 	
accelerate the drug discovery process. The platform aims       	available.
at increasing the likelihood of discovering successful lead    	https://ncisf.org/
compounds for anti-infective medicine. Unique in Australia,
the platform consist of high-performance hardware and
an integrated suite of open source and commercial software
linked to curated chemical and biological datasets.

                                                                                                                            17
Case Studies
QFAB collaborates with life scientists to help solve important challenges relating to the
analysis, management and visualisation of their research data. Read about some of our
projects and collaborations.
Index
p.	 8 	 Featured project: The embedded bioinformatician - QFAB research collaboration
  1
p.	 1 	 Southern Cross University - Plant Science Bioinformatics Support
  2
p.	 3 	 Glycoselect statistical pipeline
  2
p.	 4	 Arachnoserver, the online data repository for spider toxin research
  2
p.	 6	 EBI – Making Australian Data Discoverable
  2




Featured project:
Wound Innovation
Management CRC
                                              Dr Kim-Anh Lê Cao          Mr Jeremy Barker,       Professor Zee Upton,
                                              Biostatistician            CEO, QFAB               QUT



The embedded bioinformatician - QFAB research collaboration
By Graeme O’Neill                         theatre, a car accident, a farm         The Co-Program Leader of the               researchers in the CRC for two days       help biologists to design                 be project-specific.
A wound is a complex ecosystem,           accident, or the consequence of         Enabling Technologies Program              a week.                                   experiments and analyse the data          “So they bring us this huge data set,
seething with a diverse population        necrosis associated with chronic        in the Wound CRC, Professor Zee            “Since then, QFAB has assigned a          to answer the questions posed.            saying they want do to this type of
of the patient’s cells, and a complex     diabetes or a lifetime smoking habit.   Upton, now Assistant Dean of               succession of its research students       As the cost of purchasing and             analysis, hoping to get a certain result,
community of microbes contending          Over time, the wound’s microbial        Science at Queensland University of        and staff to work with our biologists     operating high-speed DNA                  without fully understanding what
to colonise the wound. There is           flora may vary with time, through       Technology, says it was clear from         and protein chemists, helping to          sequencers has fallen, more research      they’ve got from the experiment,
constant communication between            succession processes.                   the outset that the CRC was going          design experiments and to interpret       groups have been successful in            or how to extract what they want
them via a molecular intranet.            Fibroblasts and other specialised       to need high-order capabilities in         the data. As we were doing our            obtaining ARC infrastructure grants       from the dataset.
                                          tissue-repair cells go about their      bioinformatics to make sense of the        research QFAB was building up a           to buy these machines.”Some set out
The Wound Management Innovation                                                                                                                                                                                  “That’s where we can help. First, we
                                          business as the innate and adaptive     huge volumes of DNA, SNP and               pool of expertise in wound-healing        to use the new equipment without
Cooperative Research Centre in                                                                                                                                                                                   can explain what their data will allow
                                          immune systems’ armies of natural       proteomics data flowing from its           bioinformatics.”                          really understanding how it can be
Brisbane was established in 2010                                                                                                                                                                                 them do, or how it might allow them
                                          killer cells, macrophages, B cells      research.                                                                            used,” he said.
to explore these processes, and to                                                                                           And that’s the model QFAB is                                                        to do more than they expected.
apply its findings to develop novel       and T-cells swarm in to mount a         In previous projects the bioinformati-     offering to potential customers for its   “They may have bought the machine         “Secondly, we can help by showing
treatments to accelerate healing,         coordinated defence of the breach       cians were not physically co-located       expertise and facilities. QFAB Chief      after reading a paper in the scientific   them how to do what they really
reduce scarring, and prevent infection.   against microbial invaders.             with the biological scientist generating   Executive Officer, Jeremy Barker says     literature that used the same device.     wanted to do, and help them design
                                          The high-speed DNA sequencers           the data. “That didn’t work as             the success of biological, medical        It might describe the methods
Every patient is genetically unique,                                                                                                                                                                             experiments to produce the type of
                                          and various microarray technologies     well as we hoped,” Professor Upton         and pharmaceutical research will          used to produce the data, and the
and the microbes vying to colonise                                                                                                                                                                               data they need to answer particular
                                          required to study the dynamics of       said. “We found we needed a                depend increasingly on the expertise      conclusions, but reveals very little
their wound will vary according to                                                                                                                                                                               questions. Early engagement saves
                                          these processes over time, generate     bioinformatician with specific             of bioinformaticians who not only         about the assumptions underlying
how and where the wound occurred                                                                                                                                                                                 the costs involved in repeating
                                          enormous amounts of data.               expertise in handling wound-healing        understand the research, but can          the methodology, which tend to
– it might have been in an operating                                                                                                                                                                             experiments.
                                                                                  data, so QFAB placed one of its

18                                                                                                                                                                                                                                                      19
Barker says QFAB’s expertise in              no reserve time to learn on the job.     “We stay up to date with the
experimental design and                      That is the advantage of having a        technologies out there, and the
bioinformatics analysis can be               larger team to draw on.                  specialised methodologies that go
applied at any scale, from a simple          “Around 60 per cent of QFAB’s            with them, so we will have a pretty
microarray comparison of differential        recruits are PhDs. Everyone else is at   good idea which technology is most
gene expression, to a full-blown             least postgraduate trained, and we       appropriate for each client’s project.
systems biology analysis integrating         have a core of experienced               “The technology changes rapidly,
genomic, proteomic, metabolomic              bioinformaticians in senior positions    and all bioinformaticians think they
and clinical data.                           to bring the necessary rigour to         can produce a better algorithm
“We engage with a prospective                project planning.                        than the one described in the latest
client, discuss what they want, then         “You need the depth of experience        journal. 	
submit it to our team for a think-tank       provided by staff who have worked        “We learn and adapt as need
session on how it might be done with         on other projects before QFAB            dictates. You don’t always have to
the expertise and resources that we          recruited them.”                         reinvent the wheel; often, there is
have in-house, and at the client’s end.                                                                                                                                                            Dr Jeremy Parsons,           Ms Roxane Legaie,
                                             “A bioinformatician joining the team     already an algorithm that can do the
                                                                                                                                                                                                   Bioinformatician             Bioinformatician
“We then go back to the client with          may have had experience working          job. The trick is knowing that the
a proposal detailing where and how           on a particular class of cancers, or     algorithm exists, and how to apply it.”
we believe we can help.”                     on viral infections of mangoes, so       As for data-crunching power, Barker
Barker says QFAB has served a                they’re good with that type of data      says the facility has just updated its
                                                                                                                                Southern Cross University - Plant Science Bioinformatics Support
variety of clients over the past seven       and have that specialist knowledge       computer cluster. It has seven nodes      Brief description of the                 individuals of special interest to their   all assemblies against each other
years including CSIRO, Australia’s           as well as the more general              built around a 64-core processor,         project                                  research interests. This “de novo”         and to related species to identify
universities, medical research institutes,   bioinformatics skills. “Collectively     each with 256 gigabits of RAM,                                                     approach to whole-genome assembly          the best product for subsequent
state primary industry, fisheries and        we can call upon a broad range of        and terabyte storage capacities.          The client is an Australian university   from short shotgun reads is the most       genomic analyses.
forestry departments, and private            expertise within our teams, and ask                                                research team with broad genomic         economical and fastest path to partial
                                                                                      “That’s enough for most jobs,”
biotech and pharmaceutical companies.        them what they think about a                                                       experience and a special interest in                                                What were the outcomes?
                                                                                      he said. “But if it isn’t, we have                                                 genome reconstruction for novel
                                             particular question.                                                               genetics of Australian plants. QFAB      organisms but it is problematic            QFAB fully reconstructed two
Barker says bioinformatics is moving                                                  access to a supercomputer facility
                                                                                                                                is providing a full genomic assembly     when attempted without traditional         organelle genomes and partially
“at a mile a minute” so keeping
                    ,                        “We apply the team approach to           at the University of Queensland that
                                                                                                                                and analysis service on multiple         guidance from physical clones              assembled multiple plant nuclear
abreast of the changes requires a            every project, but we like to broaden    runs a terabyte of RAM, which can
                                                                                                                                organisms with direction and focus       or genetic maps. The “de novo”             genomes. Organelle genomes have
commitment to ongoing learning as            the discussion on the projects we        handle whole genome comparisons.”
                                                                                                                                determined by the client.                shotgun assembly method leads              been shared privately and nuclear
part of the job and an investment            have on the boil at any point in time,   “With these facilities, our broad
in the professional development of           because someone from another             expertise, and our data-integration       Background                               to fragmented and isolated plant           genomes for two Australian native
QFAB’s team.                                 team may have an insight into a                                                                                             nuclear chromosomal contigs which          species have been assembled and
                                                                                      abilities, we believe we offer a          Recent dramatic cost reductions in
                                             particularly tricky question.”                                                                                              can be difficult to analyse. QFAB          analysed for genes, repeats,
Barker says he has seen an example                                                    service beyond the in-house               shotgun genomic sequencing now
                                                                                                                                                                         and the client assembled multiple          microsatellite SSRs, and inter-species
of a research institute’s embedded           Barker says clients can be certain       bioinformatics capabilities of any        enable biologists to cheaply and
                                                                                                                                                                         genomes using different DNA                similarities. We have also prepared
bioinformatician being rapidly               that QFAB will have the best             single institution or company in          quickly sample the DNA sequence
                                                                                                                                                                         assembly programs and then compared        genome size estimates.
overwhelmed by data. “They have              available expertise to do the job -      Australia and the Asia Pacific region.”   of an interesting species, or selected

20                                                                                                                                                                                                                                                       21
Boxplot samples




                  4
                  3
                                                                              Outcome




total intensity
                  2
                                                                               cancer
                                                                               normal




                  1
                  0
                  -1
                  -2
                         5 6 7 8 9    11   13   15   17   19    21   23
                                           samples
                       One of the outlier detection steps: boxplots of the
                       biological samples coloured according to the outcome



                                                                                                                  Dr Kim-Anh Lê Cao
                                                                                                                  Biostatistician



  Glycoselect statistical pipeline
  Brief description of the                                     pipeline needed to be deployed in      proposed to process the data
  project                                                      the existing Glycoselect database to   beforehand and remove potential
                                                               identify biomarker signatures.         outliers. The resulting process clearly
  Implementation of a statistical                              One of the challenges was to propose   identified the outliers in the data
  pipeline in the Glycoselect database                         an appropriate methodology to deal     enabling the researchers to remove
  for the identification of glycoprotein                       with data which include many zero      these prior to selection of the
  biomarker signatures.                                        values – many classical statistical    biomarker panel.
  Background                                                   approaches (t-test, non parametric     The R script was handed over to
  A new high-throughput                                        test) do not apply in this case.       the Glycoselect developer to be
  glycoproteomics technology is                                What were the outcomes?                implemented into the Glycoselect
  being developed by the client to                                                                    analytical pipeline. The outliner
                                                               The statistical methodology
  uncover potential glycosylation                                                                     detection methodology including
                                                               developed by Lê Cao et al., 2011*
  changes in a complex mix of proteins                                                                visualisation of the analyses was also
                                                               was proposed for this project and
  present in biological fluids such as                                                                provided to the client.
                                                               produced very satisfying results.
  serum. The input data consists of                            The pipeline was developed using       *Lê Cao K.-A., Boitard, S. and Besse,
  protein identification as determined                         this methodology and implemented       P. (2011). Sparse PLS Discriminant
  by tandem mass spectrometry,                                 in the R statistical programming       Analysis: biologically relevant
  together with their binding affinities                       language.                              feature selection and graphical
  to a panel of lectins, which indicate                                                               displays for multiclass problems BMC
                                                               An outlier detection step was also
  the glycan structure. A statistical                                                                 Bioinformatics, 12:253

                                                                                                                                           23
Cumulative Toxins Deposited by Year                                    Toxin Distribution by Family

                                                                                                                  Other
                   900                                                                                             (86)
                                                                                                     Zodariidae                  Theraphosidae
                   800                                                                                  (28)                          (201)
                   700                                                                      Agelenidae
Number of Toxins




                                                                                               (73)
                   600

                   500
                                                                                        Hexathelidae
                   400
                                                                                            (91)
                   300
                                                                                                                                         Lyscosidae
                   200                                                                                                                      (175)
                   100                                                                           Ctenidae
                                                                                                   (99)
                    0
                         1995	   1990   1995          2000         2005       2010                                  Sicariidae
                                               Year                                                                    (167)




  ArachnoServer, the world’s first manually curated resource
  for protein spider toxins
 Brief description of the                                    These databases also require that            1) 	 Allowing secure manual curation 	      	   a single page and, where               have been made available through       Volker Herzig, David L. A. Wood,
 project                                                     their structure, data, and utility be        	 of the toxin records by the expert 	      	   available, a toxin’s structure can 	   the web interface. First, similarity   Felicity Newell, Pierre-Alain Chaumeil,
                                                             appropriately modified over time             	 team led by Professor Glenn King 	        	   be dynamically displayed.              searches can be made using BLAST.      Quentin Kaas, Greta J. Binford;
 QFAB has worked in collaboration
                                                             with new discoveries and changes             	 using available literature and 		         The solution chosen for ArachnoServer      Secondly, signal peptide and           Graham M. Nicholson; Dominique
 with Professor Glenn King to create
                                                             in information priority.                     	 patent information.                       was to develop a Java Spring Model         propeptide regions in spider-toxin     Gorse; Glenn F. King (2011)
 Arachnoserver, the online data
                                                             The aim of this project was to develop       2) 	 Providing easy and powerful 	          View Controller (MVC) application          precursors can be predicted using      ArachnoServer 2.0, an updated
 repository for spider toxin research.
                                                             a robust, extensible and maintainable        	 advanced search, browse and 		            that uses a Hibernate Object               SpiderP, a new tool developed for      online resource for spider toxin
 Background                                                  software architecture that would             	 view capabilities. ArachnoServer          Relational Mapping (ORM) layer to          ArachnoServer.                         sequences and structures. Nucleic
 High impact research requires the                           make ArachnoServer the world’s gold          	 enables neuroscientists,                  a MySQL database. Using this               ArachnoServer has become an            Acids Research 39, D653-D657
 wide and clear distribution of results.                     standard online data repository for          	 pharmacologists, and toxinologists        architecture, the application and          international resource that is         David LA Wood, Tomas Miljenović,
 This can be hampered by                                     spider toxin research for years to come.     	 to explore high quality toxin 		          data model can be easily extended          cross-referenced by the European       Shuzhi Cai, Robert J Raven, Quentin
 bioinformatics web applications,                                                                         	 information and rapidly answer 	          or modified, as changes to the data        Bioinformatics Institute’s UniProt     Kaas, Pierre Escoubas, Volker Herzig,
 which often suffer from a lack of
                                                             What were the outcomes?
                                                                                                          	 their research questions.                 model do not require SQL changes.          knowledge base (UniProtKB).            David Wilson and Glenn F King
 maintenance, leading to a decline in                        A web application was developed to           	 Each 	toxin record is displayed in                                                                                          (2009) BMC Genomics 10:375 
                                                                                                                                                      Two powerful bioinformatics tools          http://www.arachnoserver.org/
 data currency and subsequent accuracy.                      enable two key functions:


 24                                                                                                                                                                                                                                                                           25
Dr Dominique Gorse
                                                                                                   General Manager	



EBI – Making Australian Data Discoverable
Brief description of the project            The aim of this project was to develop     The link between RDA and the EBI is      >	 Identification of Australian species:   	 sequences. A Java library was 	          	   the primary data housed at the
                                            a set of software to allow nucleotide      provided through the use of landing      	 A list of Australian species was 		      	 implemented which used EBI 	             	   EBI. The webpage lists basic 	
Populating Research Data Australia
                                            and protein sequence data of               pages that are simple to use and         	 sourced from the Atlas of Living 		      	 hosted web services (http://www.	        	   metadata for the collection
with collection descriptions of data
                                            Australian interest to be discoverable     contain structured information useful    	 Australia through the IBIS taxono        	ebi.ac.uk/Tools/webservices/)             	   (eg a 	short description, synonyms 	
held in the European Bioinformatics
                                            through RDA in the form of collections.    to non-domain specialists who are        	 my web services (http://www              	 to query these databases.                	   for the collection) as well as
Institute databanks.
                                            The project was funded by the              unfamiliar with the content of the EBI   	ala.org.au/tools-services/                	 This library then inserted the           	   displaying a list of records
Background                                  Australian National Data Service           databases (http://rda.ebi.edu.au).       	species-name-services/).                  	 extracted data into a MySQL              	   (eg records of DNA or protein
The European Bioinformatics                 through the DIISRTE Education              Molecular data of Australian interest    	 These species were assigned 	            	 database. Other EBI databases 		         	   sequences) relevant to that
Institute (EBI, part of the European        Infrastructure Fund.                       that is present on the EBI are now       	 to approximately 800 higher              	 were not interrogated as they 	          	   collection. It also allows for
Molecular Biology Laboratory, EMBL)                                                    more easily found, accessible and        	 level taxonomic ranking groups 		        	 either did not contain data that 		      	   navigation back to the primary 	
provides international access to data
                                            What were the outcomes?                    re-usable through RDA                    	 (eg genus, class, order) using the       	 could be definitively identified as 	    	   source at EBI and navigation to 		
in molecular bioscience generated           In this project, more than 13,000          (http://researchdata.ands.org.au).       	 NCBI taxonomy (http://www.ncbi.          	 Australian, or were not able to be       	   related collections. The webpage 	
by researchers worldwide, including         collection records describing              The technical solutions developed        	nlm.nih.gov/taxonomy).                    	 queried using the web services.          	   was developed using Java
Australia. In its present state,            Australian-related content of the EBI      for this project were:                   	 The higher order groupings were          >	 Automatic generation of collections 	   	   servlets, JSP and JavaScript.
Australian specific data is difficult to    nucleotide and protein sequence                                                     	 selected in consultation with 		         	 and submission to RDA: Data 		           	   The web interface is deployed on 	
                                                                                       > 	Identification of Australian
isolate within the EBI databases,           databases were created. A large                                                     	 ANDS whilst the NCBI taxonomy 	          	 stored in the MySQL database was 	       	   an Apache Tomcat web server
                                                                                       	 research institutions: A list of 	
particularly for the non-domain user.       effort was made to divide and                                                       	 was used for species assignment 	        	 converted into ANDS compliant            	   on an ESX server with RedHat 		
                                                                                       	 relevant Australian research 		
The establishment of the EMBL               describe the content of large databases                                             	 as this taxonomy is used in the EBI 	    	 RIF-CS xml (using an ANDS                	   enterprise Linux 5.4.
                                                                                       	 institutions conducting biological 	
Australia Bioinformatics Resource at        into many smaller datasets that are                                                 	databases.                                	 supplied RIF-CS Java library) and 	      The software is freely available for
                                                                                       	 research was compiled. This list
the University of Queensland has            of potential interest to a wide and                                                 >	 Extraction of data from EBI             	 made accessible to a RDA harvest 	       download from Scourceforge under
                                                                                       	 includes institutions identified
provided the opportunity for linking        varied range of researchers.                                                        	 databases: Australian species or         	 data source. More than 13,000 		         the GNU General Public Licence.
                                                                                       	 through ARC and NHMRC grant 	
data of Australian interest deposited       The collections encompass two types                                                 	 research institutions were used as       	 collections were generated.              http://sourceforge.net/projects/
                                                                                       	 information and having a National
at the EBI, to Research Data Australia      of Australian data: a) data submitted                                               	 query items to interrogate the EBI                                                  ebi-rda-linkage/?source=directory
                                                                                       	 Library of Australia (NLA) Party                                                  >	 Landing page for collections:
(RDA), a cohesive repository of             from Australian-based researchers;                                                  	 databases: Uniprot (http://www
                                                                                       	 Persistent Identifier. Research                                                   	 The landing page is a webpage 	          QFAB staff contact:
research data collections enabling          b) data associated with sets (and                                                   	ebi.ac.uk/uniprot/) for protein 	
                                                                                       	 institutions were then grouped by 	                                               	 that is accessible from RDA and 		       Dominique Gorse Project Manager	
Australian researchers to easily publish,   subsets thereof) of Australian species.                                             	 sequences and ENA (http://
                                                                                       	 states and territories.                                                           	 acts as a link between RDA and 	
discover, access and use research data.                                                                                         	www.ebi.ac.uk/ena/) for nucleotide        	

26                                                                                                                                                                                                                                                         27
Publications




We have supported our client’s successful grant applications worth over $56 million.
The intellectual input of the QFAB Team provided clear bioinformatics strategies in their
experimental design and valuable outcomes in the analyses.

Recent publications in which QFAB       Schroder, K., Irvine, K.M., Taylor, M.S.,   Bauer, D. C., Willadsen, K., Buske, F.        feature selection and graphical            BMC bioinformatics, 11, 498.                untranslated regions. Nucleic Acids
has collaborated include:               Bokil, N.J., Lê Cao, K.-A., Masterman,      A., Lê Cao, K. A., Bailey, T. L.,             displays for multiclass problems.                                                      Res, 39((6)), 2393-2403.
                                                                                                                                                                             Degrelle, S. A., Lê Cao, K. A.,
                                        K-A., Labzin, L.I., Semple, C.A.,           Dellaire, G., & Boden, M. (2011).             BMC bioinformatics, 12, 253.
Muscat GE, Eriksson NA, Byth K, Loi                                                                                                                                          Heyman, Y., Everts, R. E., Campion,         Taft, R. J, Simons, C., Nahkuri, S.,
                                        Kapetanovic, R.A., Fairbairn, L.,           Sorting the nuclear proteome.
S, Graham D, Jindal S, Davis MJ,                                                                                                  Lingwood, B. E., Henry, A. M.,             E., Richard, C., Ducroix-Crépy, C.,         Oey, H., Korbie, D. J., Mercer, T. R.,
                                        Akalin, A., Faulkner, G.J., Baillie ,       Bioinformatics, 27(13), i7-14.
Clyne C, Funder JW, Simpson ER,                                                                                                   d’Emden, M. C., Fullerton, A. M.,          Tian, X. C., Lewin, H. A., Renard, J. P.,   Holst, J., Ritchie, W., Wong, J. J.,
                                        J.K., Gongora, M., Daub, C.O.,
Ragan MA, Kuczek E, Fuller PJ, Tilley                                               Herzig, V., Wood, D. L., Newell, F.,          Mortimer, R. H., Colditz, P. B.,           Robert-Granié, C., Hue, I. (2010).          Rasko, J. E., Rokhsar, D. S., Degnan,
                                        Kawaji, H., McLachlan, G.J., Goldman,
WD, Leedman PJ, Clarke CL. (2013).                                                  Chaumeil ,P. A., Kaas, Q., Binford, G.        Lê Cao, K. A., Callaway, L. K. (2011).     A small set of extra-embryonic genes        B. M., Mattick, J. S. (2010). Nuclear-
                                        N., Grimmond, S.M., Carninci, P.,
Research Resource: Nuclear                                                          J., Nicholson, G. M, Gorse, D., King,         Determinants of body fat in infants        defines a new landmark for bovine           localized tiny RNAs are associated
                                        Suzuki, H., Hayashizaki, Y., Lenhard,
Receptors as Transcriptome:                                                         G. F. (2011). ArachnoServer 2.0, an           of women with gestational diabetes         embryo staging Reproduction                 with transcription initiation and
                                        B., Hume, D.A., Sweet, M.J (2012).
Discriminant and Prognostic Value                                                   updated online resource for spider            mellitus differ with fetal sex. Diabetes   141(1), 79-89.                              splice sites in metazoans. Nature
                                        Conservation and Divergence in
in Breast Cancer. Mol Endocrinol                                                    toxin sequences and structures.               Care, 34(12), 2581-2585.                                                               Structural & Molecular Biology, 17(8),
                                        Toll-like Receptor 4-regulated gene                                                                                                  Lê Cao, K. A., Meugnier, E., &
27(2), 350-365.                                                                      [Journal article]. Nucleic acids research,                                                                                          1030-U1146.
                                        expression in primary human versus                                                        Choi, J., Davis, M. J., Newman, A. F.,     McLachlan, G. J. (2010). Integrative
                                                                                    39(Database issue), D653 - D657.
Donald M. Gardiner, Megan C.            mouse macrophages. Proceedings of                                                         & Ragan, M. A. (2010). A semantic          mixture of experts to combine               Shin, C. J., Davis, M. J., & Ragan, M.
McDonald, Lorenzo Covarelli, Peter      the National Academy of Sciences.           Lê Cao, K.-A., & LeGall, C. (2011).           web ontology for small molecules           clinical factors and gene markers.          A. (2009). Towards the mammalian
S. Solomon, Anca G. Rusu, Mhairi        Proc Natl Acad Sci 109(16), E944 - E953     Integration and variable selection of         and their biological targets. J Chem       Bioinformatics, 26(9), 1192-1198.           interactome: Inference of a core
Marshall, Kemal Kazan, Sukumar                                                      ‘omics’ data sets with PLS: a survey          Inf Model, 50(5), 732-741.                                                             mammalian interaction set in mouse.
                                        Yao, F., Coquery, J., & Lê Cao,                                                                                                      Mercer, T. R., Wilhelm, D., Dinger,
Chakraborty, Bruce A. McDonald,                                                     Journal de la Société Francaise de                                                                                                   Proteomics, 9(23), 5256-5266.
                                        K.-A. (2012). Independent Principal                                                       Davis, M. J., Sehgal, M. S., &             M.E., Soldà, G., Korbie, D. J., Glazov,
John M. Manners (2012). Comparative                                                 Statistique, 152(2).
                                        Component Analysis for biologically                                                       Ragan, M. A. (2010). Automatic,            E. A., Truong, V., Schwenke, M.,            Shin, C. J., Wong, S., Davis, M. J., &
Pathogenomics Reveals Horizontally
                                        meaningful dimension reduction              Lê Cao, K. A., Boitard, S., & Besse,          context-specific generation of Gene        Simons, C., Matthaei, K.I., Saint, R.,      Ragan, M. A. (2009). Protein-protein
Acquired Novel Virulence Genes
                                        of large biological data sets. BMC          P. (2011). Sparse PLS discriminant            Ontology slims. [Journal Article           Koopman, P., Mattick, J. S. (2010).         interaction as a predictor of subcellular
in Fungi Infecting Cereal Hosts.
                                        bioinformatics, 13(1), 24.                  analysis: biologically relevant               Research Support Non-U S Gov’t].           Expression of distinct RNAs from 3’         location. BMC Syst Biol, 3, 28.
PLoS Pathog Sep, 8(9).

28                                                                                                                                                                                                                                                             29
www.qfab.org

QFAB Bioinformatics
Level 6, Queensland Bioscience Precinct
The University of Queensland
306 Carmody Road
St Lucia QLD 4067
Australia

T +61 (0)7 3346 2604
F +61 (0)7 3346 2101
E contact@qfab.org

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QFAB at a glance

  • 1. BIOINFORMATICS at a glance
  • 2. Foundation Partners Contents 2 About QFAB 17 Tools & Platforms 3 QFAB Solutions - mixOmics 4 QFAB Governance - Systems Biology Platform Collaborators 6 Testimonials 8 QFAB Team - Chemi-Biology Platform - Genomics Virtual Laboratory 10 QFAB Service - NCI-SF IMB – Institute for Molecular Bioscience - Next Generation Sequencing - Embl Australia EMBL Australia Bioinformatics Resource - Genotyping Data 18 Case Studies - Microarray Data - Featured project: Genomics Virtual Laboratory – Nectar - Integrated Systems Biology The embedded bioinformatician - Australian e-Health Research Centre - Mass Spectrometry Data QFAB research collaboration ARC Centre of Excellence in Bioinformatics - Cheminformatics - Southern Cross Univerity - NCI-Specialised Facility in Bioinformatics - Biostatistics Science Bioinformatics Support Plant Intersect Australia Ltd - Software and Web Development - Glycoselect statistical pipeline QCIF – Queensland Cyber Infrastructure Foundation - High Performance Computing - ArachnoServer, the world’s - Consulting first manually curatable resource for Wound Management Innovation CRC - Training protein spider toxins The University of Auckland - EBI – Making Australian Université de Toulouse Data Discoverable PROOF Centre of Excellence, Canada 28 Publications 1
  • 3. QFAB Solutions Mr Jeremy Barker Chief Executive Officer QFAB provides scalable and open solutions which enable experience and our broad suite of open source and scientists to extract the greatest value from their research commercial software and computational systems. data, across a variety of applications, technologies, and Flexible, rapid and researcher oriented, QFAB has built a About QFAB industries. reputation for supporting the production of high quality QFAB can work on specific projects, provide time against outcomes which deliver those high impact publications an ongoing need or become embedded in your or patents faster. organisation. Our solution will draw on the entire team’s What we do Who we do it for However you define bioinformatics, as broadly or narrowly Life science scientists are our clients. With a focus on as you wish, it fundamentally enables the modern client success, our skilled and expert team understands day researcher to handle and analyse large and complex the biological question. We can help you define the data – the big data challenge - an essential part of appropriate bioinformatics and biostatistics approach understanding biology. and apply the correct analyses to deliver on your project. Established in 2007, QFAB focuses on delivering robust, By unlocking the full value of your data, QFAB has high quality and relevant bioinformatics services for life become a leading provider of bioinformatics services science researchers to analyse and manage large-scale to industry, clinical, applied and academic life science datasets. researchers, including the biotechnology, pharmaceutical, We offer our clients a range of professional services clinical and research communities. – from contract research, project design and analysis, We operate nationally and internationally with a Technologies Applications Industries scientific software development, to designing, deploying commitment to continuous engagement throughout We support evolving We design applications to We work with researchers and refining the high performance IT infrastructure the project. technologies used by life support: across a number of industries: that is required to support life science informatics. science researchers including: Our support ranges from experimental design, data What we stand for capture and mining through to NGS, proteomic - Pathology/clinical data - Molecular biology research - Academic research Our highly experienced and skilled team is the foundation and metabolomic analyses. We are also expert in - Biomarker discovery - Healthcare of our success. As a team, we are committed to operating - Next generation sequencing: cross-domain integration with clinical data. ethically, with integrity and respect at all times. We believe Roche 454 GS-FLX, Illumina - Crop science and livestock - Pharma R&D QFAB’s training division provides integrated workshops that open communication, flexibility and honesty are the HiSeq, LifeTechnologies Solid, through to customised solutions in all facets of - Biodiversity - Clinical research keys to successful customer engagement. Ion Torrent data bioinformatics. - Molecular diagnosis - Biotechnologies Early engagement means we can take the time to understand - Genotyping: We have a strong track record of delivering results which your goals and help derive the most efficient and - Drug discovery - Food industry ABI-LifeTechnologies, Illumina, are grounded in the team’s commitment to continuous cost-effective bioinformatics solutions, while the international Affymetrix, Agilent - Translational research - Environment learning and innovation, ensuring that our clients can experience brought to projects by our team members trust in the knowledge and integrity of our support. - Microarrays - Epidemiology - Biodiversity ensures the application of the relevant tools to the right data to answer your particular questions. - Mass spectrometry: - Pathway analysis - Energy We are the research data specialists: responsive, SELDI, MALDI, iTRACK - Clinical trials - Agricultural R&D professional, secure and quality focused. 2 3
  • 4. QFAB Specialist Advisory Group Dr Rhys Francis Dr Gregory Harper Dr Tim Littlejohn Warren Parker Dr Nadia Rosenthal Executive Director, Director, New Employee CEO, Director, Australian External Learning Lead, Scion, Australian eResearch Engagement, diversity, New Zealand Regenerative Infrastructure CSIRO life sciences, Forest Research Medicine Institute Council IBM Institute, New Zealand QFAB Governance Mr Peter Turnbull seven management and advisory Chemistry and Computer Science Infectious Disease Research Program tradition of the Berkeley L0 project, Dr Andrew Lewis boards in molecular bioscience, and a PhD in Theoretical Chemistry at IHBI, which forms part of IHBI’s where he contributed a connectionist Chairman Griffith University informatics and e-Research. at the Australian National University. Cells and Tissue Domain. Ken was synthesis of bottom-up and Peter is a company director and He has more than 160 peer-reviewed appointed to the role of IHBI Deputy top-down attentional systems as a Andrew is a Senior Research Specialist corporate lawyer. Peter’s business in eResearch Services at Griffith interests span many East Asian publications and research interests Dr Wayne Jorgensen Director in 2010. He has worked in model of spatial relations acquisition University. Andrew’s research expertise that include comparative, the area of mucosal immunology for and processing. Jim also leads markets, Europe and the United Queensland Government includes parallel optimisation computational and evolutionary the past 25 years at the University of development of software States. He is currently the Chairman genomics, high-throughput Wayne has over 25 years of research Alabama at Birmingham (UAB) and internationalisation work within algorithms for large numerical or a Director of various private and bioinformatics, high-performance experience in parasitology. Wayne the University of Newcastle prior Australia. simulations, including bio-inspired unlisted public companies and is a computing, and technologies for has published over 70 research to moving to QUT. Ken’s current algorithms (particle swarm, ant colony, former Director of the Securities and papers in refereed, international spatial social networks, evolutionary Futures Commission of Hong Kong. management and integration of journals and over 70 conference research interests focus on immunity Mr Jeremy Barker programming and extremal large datasets. to sexually transmitted infections, Peter has particular expertise in the papers at national and international QFAB optimisation), direct search algorithms in particular Chlamydia trachomatis. commercialisation of new technologies, conferences. He has written chapters Jeremy is the founding CEO of QFAB (simplex and pattern search methods) strategic planning, and complex Dr David Hansen on tick-borne diseases for the Office His research aims to define and (Queensland Facility for Advanced and gradient descent (quasi-Newton differentiate the immune parameters legal, commercial and corporate CSIRO International des Epizooties, Bioinformatics) which he joined with BFGS update). He specialises of immune-mediated inflammatory governance transactions and alternate David is CEO of the Australian International Livestock Research pathology caused by Chlamydia full time in June 2007. Jeremy is in multi-objective optimisation dispute resolution strategies. He is a e-Health Research Centre. David Institute, Food and Agriculture infection from the immune responsible for the overall techniques for engineering design, recent past-President, and Chairman leads the research programs of the Organization of the United Nations, mechanisms that can protect against management of QFAB. He holds including the application of a variety of Chartered Secretaries Australia, AeHRC, a joint venture between Parasitology Journal, and Merck. chlamydial infection to developing postgraduate qualifications in of algorithms to complex problems, and is a Fellow of the Australian CSIRO and the Queensland He is co-editor for Babesiosis in the effective chlamydial vaccines. science, commerce and governance methods of interactive optimisation, Institute of Company Directors. Government. Prior to joining CSIRO, International Consortium for Tick and has over 20 years of experience automated preference selection in David led development of the and Tick-borne Diseases Journal and in the management of life science Pareto-optimal sets, extension to Associate Professor Professor Mark Ragan Sequence Retrieval System (SRS) at developed two international patents James Hogan organisations including a number of many-objective and dynamic LION Bioscience Ltd in Cambridge, on poultry coccidiosis vaccines. Board positions for biotechnology environments, and the development IMB QUT UK. SRS is the leading genomic data In 2008 Wayne received the Australia companies. In 2007, Jeremy was of automated, problem-solving Mark is the founding head of the and tool integration software, and Day award for contribution to awarded a Churchill Fellowship to frameworks. He also has expertise in Jim is an Associate Professor in the Division of Genomics and is used by pharmaceutical and Queensland’s Primary Industries. undertake an international study parallel, distributed and grid computing Electrical Engineering and Computer Computational Biology at the biotechnology companies, such as on ‘Management Best Practice in methods, including cluster-based, ad Science Faculty at QUT. His research Institute for Molecular Bioscience of The University of Queensland, and Glaxo Kline-Smith, Celera and Professor Ken Beagly interests include machine learning the Delivery of Bioinformatics to hoc grid, distributed, peer-to-peer Affymetrix, as well as academic and its application to cognitive Researchers’. He is a member of systems and cloud computing; and Director of the Australian Research IHBI institutes, including The European science, and bioinformatics problems the Australian Institute of Company advanced visualisation techniques for Council Centre of Excellence in Bioinformatics Institute. David Ken is Deputy Director, Institute of Directors. scientific data analysis. and software engineering. Jim’s work Bioinformatics. Mark is a Fellow of undertook a Bachelor of Science at Health and Biomedical Innovation is concerned with learning in visual the Linnean Society of London, and the University of Queensland in (IHBI). He is a Professor of Immunology domains with associated text, in the serves on six editorial boards and at QUT and the leader of the 4 5
  • 5. The embedded bioinformatician “QFAB has assigned a successionof its research students and staff to work with our biologists and protein chemists, helping to design experiments and to interpret the data. As we were doing our research, QFAB was building up a pool of expertise in wound-healing bioinformatics.” Professor Zee Upton Testimonials QFAB’s expertise in experimental design and analysis can be applied Professor Zee Upton at any scale, from a simple microarray comparison of differential Wound Management Innovation gene expression, to a full-blown systems biology analysis integrating Cooperative Research Centre genomic, proteomic, metabolomic and clinical data. The Co-Program Leader of the Enabling Technologies Program in the Wound CRC, Professor Zee Upton, now Assistant Dean of Science at Professor Glenn King Dr Roslyn Brandon Queensland University of Technology, Institute of Molecular Bioscience, Co-Founder, President and CEO says it was clear from the outset that the The University of Queensland of Immunexpress (IXP) CRC was going to need high-order capabilities “QFAB has collaborated with us over a number of years “Since an initial collaborative project in 2010, IXP has in bioinformatics to make sense of the huge to build a world-first spider toxin database that allows us significantly increased its work with QFAB as a contract volumes of DNA, SNP and proteomics data to combine data from publicly available databases including supplier of bioinformatics services. QFAB undertakes IXP’s flowing from its research. mRNA and protein sequences, 3D structures, and genomics multivariate data analytical work – a critical functional information for hundreds of venom proteins. foundation for the development of our novel clinical In previous projects the bioinformaticians In our most recent project, QFAB worked with us to add diagnostic products. IXP is leading the world in applying were not physically co-located with the a number of new features to the database, including a its patented immune system blood biomarkers to improving toxin mass calculator, taxonomic target search, and the management of sepsis patients and those at risk of biological scientist generating the data. mechanisms to control the privacy of records. QFAB’s sepsis. Sepsis is a life-threatening immune response “That didn’t work as well as we hoped,” innovative approach and responsiveness has been to infection and is a leading cause of death in Intensive Professor Upton said. essential to the success of this project. I am happy to Care Units. QFAB works very effectively with our team endorse QFAB as a provider of highly effective research to produce results time effectively and cost efficiently. “We found we needed a bioinformatician data management solutions.”  The QFAB project team is a mainstay for our business as our with specific expertise in handling product development processes rely heavily on world-class wound-healing data, so informatics. We have been very pleased with the quality and responsiveness of QFAB, and I am delighted to provide QFAB placed one of its researchers this testimonial for their client services.” in the CRC for two days a week.” 6 7
  • 6. QFAB Team Senior Management Team Mr Jeremy Barker Dr Dominique Gorse Chief Executive Officer General Manager “QFAB is a vibrant and dynamic workplace, reflecting the variety of projects that attracted me to QFAB initially. I enjoy the challenge of working for an organisation that is at the cutting edge of bioinformatics Ms Mathilde Desselle Dr Mark Crowe Dr Stephen Rudd and the satisfaction gained from liberating more knowledge or productivity Business Development & Training & Outreach Manager Head of Computational for the customer by applying advanced bioinformatic solutions.” Marketing Manager Biology Dr Leo McHugh Computational Biology Data Specialists Dr Kim-Anh Lê Cao Ms Roxane Legaie Dr Jeremy Parsons Ms Sarah Williams Biostatistician Bioinformatician Bioinformatician Bioinformatician Dr Xin-Yi Chua Ms Amanda Miotto Dr Leo McHugh Mr Pierre Chaumeil Ms Anne Kunert Mr Nick Rhodes Senior Bioinformatician eResearch Support Specialist Senior Computational Biologist Bioinformatician Bioinformatician Database and Systems Administrator 8 9
  • 7. QFAB Services QFAB is the research data specialist. We support the bioinformatics requirements of research-intensive universities, institutions and companies and provide secure access to very large databases, dedicated softwares, high-performance computing, terabyte storage, data integration technologies and advanced bioinformatics services. We pride ourselves in developing tailored, relevant bioinformatics solutions to meet research needs to: > Provide scalable infrastructure to meet future growth > Enable reasoning across data sources > Enable collaboration between scientists within > Develop workflows for easy and efficient data disparate research areas processing, analysis and visualisation. Our services include: Next Generation Sequencing Genomic capture > Adjustments of interpretation settings > Mutation and variant detection > Taxonomic trees Unlock the full value of your next-generation sequencing (NGS) data sets from Illumina > Identification and positioning of known and unknown > Samples comparison mutations RNAseq and microRNA HiSeq, Roche 454 GS-FLX and LifeTechnologies > Transcription: Influence of the mutation on the protein Solid and Ion Torrent platforms. RNAseq functionality QFAB provides tailored bioinformatics services to biologists > Changes in expression across the spectrum of computational techniques and ChipSeq > Detection of novel splice isoforms or transcripts services applicable to molecular biology and next generation > Mapping and genes identification sequencing. QFAB researchers design and implement > De novo transcriptome assembly > Comparison if samples regulated by the same custom bioinformatics approaches that are developed in transcription factor > Mutation detection consultation with researchers for specific questions in Annotation pipeline molecular biology. We can also integrate your genomics Exome data with other omics and clinical datasets. > Listing of identified mutations between the study > Prediction of coding regions Our NGS data analysis services include: samples and the reference: SNPs, InDels > Annotation of coding genes, non-coding RNA, tRNA, rRNA, miRNA… De Novo or reference genome assembly and > Identification of known mutations by comparing the annotation results to international databases > Repeat identification > Assembly and mapping > Influence of the mutation on the protein functionality > Statistics of annotation and analysis of GC content > Structural and functional annotation of the genome Metagenomics (ORF detection, assignment of genes,…) > Creation of reference database and alignment for or > Samples comparison ganisms identification 10 11
  • 8. Integrated Systems Biology QFAB supports systems biology research across the spectrum of interdisciplinary techniques. QFAB researchers work with biologists to define the nature of the biological systems under investigation in specific research projects. We develop or customise approaches for understanding these systems, or inferring the properties of such systems from high-throughput data sets: > Integration and simultaneous analysis of multiple omics or clinical datasets > Pathway and network analysis > Enrichment analysis > Gene regulation studies > Visualisation (correlations, networks, genome browsers). Genotyping Data Mass Spectrometry Data We can provide data filtering and genotype QFAB provides mass spectrometry data calling, as well as integration of your analysis, from design to protein identification, genotyping datasets into data management, annotation of secondary modifications, and visualisation, pathways network-based determination of the absolute or relative analysis or development of molecular abundance of individual proteins. diagnostic chip/IVD device. > Design QFAB researchers design and implement custom > Picks detection and protein identification bioinformatics approaches that are developed in > Annotation consultation with researchers for specific questions in > Quantitative analysis molecular biology: > Interpretation > SNP genotyping data We support data from most of the existing mass > Microsatellites / minisatellites genotyping data spectrometry platforms. > Genotyping by Sequencing data We support data from most of the existing genotyping and sequencing platforms. Cheminformatics QFAB supports drug discovery projects with Microarrays Data SAR analysis and SAR development using cheminformatics approaches. QFAB offers a wide range of statistical and > Prioritisation of compounds and assays bioinformatic analyses of microarray data, (Efficacy, Toxicity, ADME) ranging from design and quality control to > Provide databases and tools for compound samples comparison. registration and inventory > Design > HTS data handling, mining and reporting > Quality control > Design of compound libraries > Normalisation (diverse, focused or targeted) > Quantification: gene expression, exon level, > Combinatorial library design and library copy number enumeration > Differential samples comparison, and > Undesirable molecule elimination comparison with public datasets > Hit-to-lead optimization > Combination and integration with other data. > ADME and toxicity profiling. 12 13
  • 9. Biostatistics High Performance Computing QFAB provides expert biostatistical services to Mr Nick Rhodes support the design of biological experiments, Database and Systems Administrator biomarker identification, collection and QFAB’s HPC services include: analysis of data from experiments, and the > Hardware access / infrastructure interpretation of that data. > Cluster computing QFAB provides tailored data mining services to researchers who want to get more from their datasets. By creating > Cloud computing customised data mining solutions, QFAB can assist researchers > High memory servers. to get more from their existing data sets. By consulting with QFAB early, QFAB research staff can also provide detailed advice on the best methods for data capture, annotation Consulting and storage to maximise the benefits likely to result from Dr Dominique Gorse the application of data mining techniques. General Manager Our biostatistical services include: Discuss with us the design of your research project, > Combination and integration of multiple and evaluate bioinformatics analysis and support to be datasets types incorporated in your grant proposal. QFAB answers your > Univariate and multivariate analysis consulting need on a project basis, on a regular basis > Power calculation (number of days/ week-month-year), as well as through embedded staff model. > Classification QFAB can help scientists with access to the We undertake collaborations in clinical research informatics bioinformatics tools and the computational capability and research IT services with a growing number of clinical needed to meet the challenges of visualising disparate and translational research investigators. datasets which may use different or no ontologies and, at the social and regulatory levels, the need to maintain patient confidentiality through compliance with clinical records privacy laws. Building on our strengths in understanding and translating the needs of the researcher into the language of the bioinformatician and IT professional, QFAB can work closely with your research team to address both the data management and Software and Web Development bioinformatic aspects of your translational research project. Research computing resources offered by QFAB enable the visualisation and analysis of large biological data sets and to address Training complex biological problems. Dr Mark Crowe QFAB develops custom software tools, data management Training & Outreach Manager systems and web interface for life sciences researchers. QFAB understands the biological question and can help We support large collaborative research projects where the you unlock the answers from your data through our member groups are based in different locations. We develop specialised training programs. We provide a range of online tools for project participants to securely store their flexible modules, courses and workshops designed to suit own data, access other members’ data and allow real-time your needs – ranging from introductory project-focused communication between collaborative group members. courses to advanced bioinformatics. Our goal is to Our ICT services include: improve knowledge diffusion between experimental > Database development biologists and bioinformaticians, that is, increase the interaction between developers and users. > Web interface to biological databases Contact QFAB for details of how QFAB can meet your > Data analysis web applications. training needs. For more information on QFAB services, contact us: www.qfab.org 14 15
  • 10. Tools & Platforms QFAB has a core team of software engineers Industry Collaboration and biologists who work together to help QFAB provides technical collaboration for: describe, formulate and build applications Embl Australia Bioinformatics Resource to analyse and manage your research data. Our unique tools and platforms include: An online data resource replicating important components of the data and data services provided MixOmics by the European Bioinformatics Institute (EBI) - The integration of multiple ‘omics’ analyses enables a to provide Australian scientists with faster access better understanding of a biological system as a whole. to EBI datasets and expanded collections of QFAB’s mixOmics product is an R package dedicated Australian data. to the exploration and the integration of highly dimensional http://www.ebi.edu.au/ data sets. MixOmics provides a strong focus on graphical representation, to better understand the relationships between the different types of data and to visualize the Genomics Virtual Laboratory (GVL) correlation structure between different measured entities. Systems Biology Platform The GVL provides Australian researchers with a community of accessible infrastructure, expertise Analysis of complex molecular networks which control and advocacy that connects genome researchers biological processes requires an integrated, highly capable with massive datasets, sophisticated analysis tools, bioinformatics platform. QFAB has developed a scalable and large-scale computational infrastructure. computational environment to analyse, model and infer biomolecular networks. Our platform is unique in Australia, https://www.nectar.org.au/genomics-virtual-laboratory with high-performance hardware and an integrated suite of commercial software linked to curated datasets. NCI-SF in Bioinformatics Chemi-Biology Platform QFAB’s chemi-biology computational platform brings The National Computational Infrastructure, together complementary expertise in infectious disease Specialised Facility (NCI-SF) portal provides research and advanced computational methods to information on the hardware, software and services accelerate the drug discovery process. The platform aims available. at increasing the likelihood of discovering successful lead https://ncisf.org/ compounds for anti-infective medicine. Unique in Australia, the platform consist of high-performance hardware and an integrated suite of open source and commercial software linked to curated chemical and biological datasets. 17
  • 11. Case Studies QFAB collaborates with life scientists to help solve important challenges relating to the analysis, management and visualisation of their research data. Read about some of our projects and collaborations. Index p. 8 Featured project: The embedded bioinformatician - QFAB research collaboration 1 p. 1 Southern Cross University - Plant Science Bioinformatics Support 2 p. 3 Glycoselect statistical pipeline 2 p. 4 Arachnoserver, the online data repository for spider toxin research 2 p. 6 EBI – Making Australian Data Discoverable 2 Featured project: Wound Innovation Management CRC Dr Kim-Anh Lê Cao Mr Jeremy Barker, Professor Zee Upton, Biostatistician CEO, QFAB QUT The embedded bioinformatician - QFAB research collaboration By Graeme O’Neill theatre, a car accident, a farm The Co-Program Leader of the researchers in the CRC for two days help biologists to design be project-specific. A wound is a complex ecosystem, accident, or the consequence of Enabling Technologies Program a week. experiments and analyse the data “So they bring us this huge data set, seething with a diverse population necrosis associated with chronic in the Wound CRC, Professor Zee “Since then, QFAB has assigned a to answer the questions posed. saying they want do to this type of of the patient’s cells, and a complex diabetes or a lifetime smoking habit. Upton, now Assistant Dean of succession of its research students As the cost of purchasing and analysis, hoping to get a certain result, community of microbes contending Over time, the wound’s microbial Science at Queensland University of and staff to work with our biologists operating high-speed DNA without fully understanding what to colonise the wound. There is flora may vary with time, through Technology, says it was clear from and protein chemists, helping to sequencers has fallen, more research they’ve got from the experiment, constant communication between succession processes. the outset that the CRC was going design experiments and to interpret groups have been successful in or how to extract what they want them via a molecular intranet. Fibroblasts and other specialised to need high-order capabilities in the data. As we were doing our obtaining ARC infrastructure grants from the dataset. tissue-repair cells go about their bioinformatics to make sense of the research QFAB was building up a to buy these machines.”Some set out The Wound Management Innovation “That’s where we can help. First, we business as the innate and adaptive huge volumes of DNA, SNP and pool of expertise in wound-healing to use the new equipment without Cooperative Research Centre in can explain what their data will allow immune systems’ armies of natural proteomics data flowing from its bioinformatics.” really understanding how it can be Brisbane was established in 2010 them do, or how it might allow them killer cells, macrophages, B cells research. used,” he said. to explore these processes, and to And that’s the model QFAB is to do more than they expected. apply its findings to develop novel and T-cells swarm in to mount a In previous projects the bioinformati- offering to potential customers for its “They may have bought the machine “Secondly, we can help by showing treatments to accelerate healing, coordinated defence of the breach cians were not physically co-located expertise and facilities. QFAB Chief after reading a paper in the scientific them how to do what they really reduce scarring, and prevent infection. against microbial invaders. with the biological scientist generating Executive Officer, Jeremy Barker says literature that used the same device. wanted to do, and help them design The high-speed DNA sequencers the data. “That didn’t work as the success of biological, medical It might describe the methods Every patient is genetically unique, experiments to produce the type of and various microarray technologies well as we hoped,” Professor Upton and pharmaceutical research will used to produce the data, and the and the microbes vying to colonise data they need to answer particular required to study the dynamics of said. “We found we needed a depend increasingly on the expertise conclusions, but reveals very little their wound will vary according to questions. Early engagement saves these processes over time, generate bioinformatician with specific of bioinformaticians who not only about the assumptions underlying how and where the wound occurred the costs involved in repeating enormous amounts of data. expertise in handling wound-healing understand the research, but can the methodology, which tend to – it might have been in an operating experiments. data, so QFAB placed one of its 18 19
  • 12. Barker says QFAB’s expertise in no reserve time to learn on the job. “We stay up to date with the experimental design and That is the advantage of having a technologies out there, and the bioinformatics analysis can be larger team to draw on. specialised methodologies that go applied at any scale, from a simple “Around 60 per cent of QFAB’s with them, so we will have a pretty microarray comparison of differential recruits are PhDs. Everyone else is at good idea which technology is most gene expression, to a full-blown least postgraduate trained, and we appropriate for each client’s project. systems biology analysis integrating have a core of experienced “The technology changes rapidly, genomic, proteomic, metabolomic bioinformaticians in senior positions and all bioinformaticians think they and clinical data. to bring the necessary rigour to can produce a better algorithm “We engage with a prospective project planning. than the one described in the latest client, discuss what they want, then “You need the depth of experience journal. submit it to our team for a think-tank provided by staff who have worked “We learn and adapt as need session on how it might be done with on other projects before QFAB dictates. You don’t always have to the expertise and resources that we recruited them.” reinvent the wheel; often, there is have in-house, and at the client’s end. Dr Jeremy Parsons, Ms Roxane Legaie, “A bioinformatician joining the team already an algorithm that can do the Bioinformatician Bioinformatician “We then go back to the client with may have had experience working job. The trick is knowing that the a proposal detailing where and how on a particular class of cancers, or algorithm exists, and how to apply it.” we believe we can help.” on viral infections of mangoes, so As for data-crunching power, Barker Barker says QFAB has served a they’re good with that type of data says the facility has just updated its Southern Cross University - Plant Science Bioinformatics Support variety of clients over the past seven and have that specialist knowledge computer cluster. It has seven nodes Brief description of the individuals of special interest to their all assemblies against each other years including CSIRO, Australia’s as well as the more general built around a 64-core processor, project research interests. This “de novo” and to related species to identify universities, medical research institutes, bioinformatics skills. “Collectively each with 256 gigabits of RAM, approach to whole-genome assembly the best product for subsequent state primary industry, fisheries and we can call upon a broad range of and terabyte storage capacities. The client is an Australian university from short shotgun reads is the most genomic analyses. forestry departments, and private expertise within our teams, and ask research team with broad genomic economical and fastest path to partial “That’s enough for most jobs,” biotech and pharmaceutical companies. them what they think about a experience and a special interest in What were the outcomes? he said. “But if it isn’t, we have genome reconstruction for novel particular question. genetics of Australian plants. QFAB organisms but it is problematic QFAB fully reconstructed two Barker says bioinformatics is moving access to a supercomputer facility is providing a full genomic assembly when attempted without traditional organelle genomes and partially “at a mile a minute” so keeping , “We apply the team approach to at the University of Queensland that and analysis service on multiple guidance from physical clones assembled multiple plant nuclear abreast of the changes requires a every project, but we like to broaden runs a terabyte of RAM, which can organisms with direction and focus or genetic maps. The “de novo” genomes. Organelle genomes have commitment to ongoing learning as the discussion on the projects we handle whole genome comparisons.” determined by the client. shotgun assembly method leads been shared privately and nuclear part of the job and an investment have on the boil at any point in time, “With these facilities, our broad in the professional development of because someone from another expertise, and our data-integration Background to fragmented and isolated plant genomes for two Australian native QFAB’s team. team may have an insight into a nuclear chromosomal contigs which species have been assembled and abilities, we believe we offer a Recent dramatic cost reductions in particularly tricky question.” can be difficult to analyse. QFAB analysed for genes, repeats, Barker says he has seen an example service beyond the in-house shotgun genomic sequencing now and the client assembled multiple microsatellite SSRs, and inter-species of a research institute’s embedded Barker says clients can be certain bioinformatics capabilities of any enable biologists to cheaply and genomes using different DNA similarities. We have also prepared bioinformatician being rapidly that QFAB will have the best single institution or company in quickly sample the DNA sequence assembly programs and then compared genome size estimates. overwhelmed by data. “They have available expertise to do the job - Australia and the Asia Pacific region.” of an interesting species, or selected 20 21
  • 13. Boxplot samples 4 3 Outcome total intensity 2 cancer normal 1 0 -1 -2 5 6 7 8 9 11 13 15 17 19 21 23 samples One of the outlier detection steps: boxplots of the biological samples coloured according to the outcome Dr Kim-Anh Lê Cao Biostatistician Glycoselect statistical pipeline Brief description of the pipeline needed to be deployed in proposed to process the data project the existing Glycoselect database to beforehand and remove potential identify biomarker signatures. outliers. The resulting process clearly Implementation of a statistical One of the challenges was to propose identified the outliers in the data pipeline in the Glycoselect database an appropriate methodology to deal enabling the researchers to remove for the identification of glycoprotein with data which include many zero these prior to selection of the biomarker signatures. values – many classical statistical biomarker panel. Background approaches (t-test, non parametric The R script was handed over to A new high-throughput test) do not apply in this case. the Glycoselect developer to be glycoproteomics technology is What were the outcomes? implemented into the Glycoselect being developed by the client to analytical pipeline. The outliner The statistical methodology uncover potential glycosylation detection methodology including developed by Lê Cao et al., 2011* changes in a complex mix of proteins visualisation of the analyses was also was proposed for this project and present in biological fluids such as provided to the client. produced very satisfying results. serum. The input data consists of The pipeline was developed using *Lê Cao K.-A., Boitard, S. and Besse, protein identification as determined this methodology and implemented P. (2011). Sparse PLS Discriminant by tandem mass spectrometry, in the R statistical programming Analysis: biologically relevant together with their binding affinities language. feature selection and graphical to a panel of lectins, which indicate displays for multiclass problems BMC An outlier detection step was also the glycan structure. A statistical Bioinformatics, 12:253 23
  • 14. Cumulative Toxins Deposited by Year Toxin Distribution by Family Other 900 (86) Zodariidae Theraphosidae 800 (28) (201) 700 Agelenidae Number of Toxins (73) 600 500 Hexathelidae 400 (91) 300 Lyscosidae 200 (175) 100 Ctenidae (99) 0 1995 1990 1995 2000 2005 2010 Sicariidae Year (167) ArachnoServer, the world’s first manually curated resource for protein spider toxins Brief description of the These databases also require that 1) Allowing secure manual curation a single page and, where have been made available through Volker Herzig, David L. A. Wood, project their structure, data, and utility be of the toxin records by the expert available, a toxin’s structure can the web interface. First, similarity Felicity Newell, Pierre-Alain Chaumeil, appropriately modified over time team led by Professor Glenn King be dynamically displayed. searches can be made using BLAST. Quentin Kaas, Greta J. Binford; QFAB has worked in collaboration with new discoveries and changes using available literature and The solution chosen for ArachnoServer Secondly, signal peptide and Graham M. Nicholson; Dominique with Professor Glenn King to create in information priority. patent information. was to develop a Java Spring Model propeptide regions in spider-toxin Gorse; Glenn F. King (2011) Arachnoserver, the online data The aim of this project was to develop 2) Providing easy and powerful View Controller (MVC) application precursors can be predicted using ArachnoServer 2.0, an updated repository for spider toxin research. a robust, extensible and maintainable advanced search, browse and that uses a Hibernate Object SpiderP, a new tool developed for online resource for spider toxin Background software architecture that would view capabilities. ArachnoServer Relational Mapping (ORM) layer to ArachnoServer. sequences and structures. Nucleic High impact research requires the make ArachnoServer the world’s gold enables neuroscientists, a MySQL database. Using this ArachnoServer has become an Acids Research 39, D653-D657 wide and clear distribution of results. standard online data repository for pharmacologists, and toxinologists architecture, the application and international resource that is David LA Wood, Tomas Miljenović, This can be hampered by spider toxin research for years to come. to explore high quality toxin data model can be easily extended cross-referenced by the European Shuzhi Cai, Robert J Raven, Quentin bioinformatics web applications, information and rapidly answer or modified, as changes to the data Bioinformatics Institute’s UniProt Kaas, Pierre Escoubas, Volker Herzig, which often suffer from a lack of What were the outcomes? their research questions. model do not require SQL changes. knowledge base (UniProtKB). David Wilson and Glenn F King maintenance, leading to a decline in A web application was developed to Each toxin record is displayed in (2009) BMC Genomics 10:375  Two powerful bioinformatics tools http://www.arachnoserver.org/ data currency and subsequent accuracy. enable two key functions: 24 25
  • 15. Dr Dominique Gorse General Manager EBI – Making Australian Data Discoverable Brief description of the project The aim of this project was to develop The link between RDA and the EBI is > Identification of Australian species: sequences. A Java library was the primary data housed at the a set of software to allow nucleotide provided through the use of landing A list of Australian species was implemented which used EBI EBI. The webpage lists basic Populating Research Data Australia and protein sequence data of pages that are simple to use and sourced from the Atlas of Living hosted web services (http://www. metadata for the collection with collection descriptions of data Australian interest to be discoverable contain structured information useful Australia through the IBIS taxono ebi.ac.uk/Tools/webservices/) (eg a short description, synonyms held in the European Bioinformatics through RDA in the form of collections. to non-domain specialists who are my web services (http://www to query these databases. for the collection) as well as Institute databanks. The project was funded by the unfamiliar with the content of the EBI ala.org.au/tools-services/ This library then inserted the displaying a list of records Background Australian National Data Service databases (http://rda.ebi.edu.au). species-name-services/). extracted data into a MySQL (eg records of DNA or protein The European Bioinformatics through the DIISRTE Education Molecular data of Australian interest These species were assigned database. Other EBI databases sequences) relevant to that Institute (EBI, part of the European Infrastructure Fund. that is present on the EBI are now to approximately 800 higher were not interrogated as they collection. It also allows for Molecular Biology Laboratory, EMBL) more easily found, accessible and level taxonomic ranking groups either did not contain data that navigation back to the primary provides international access to data What were the outcomes? re-usable through RDA (eg genus, class, order) using the could be definitively identified as source at EBI and navigation to in molecular bioscience generated In this project, more than 13,000 (http://researchdata.ands.org.au). NCBI taxonomy (http://www.ncbi. Australian, or were not able to be related collections. The webpage by researchers worldwide, including collection records describing The technical solutions developed nlm.nih.gov/taxonomy). queried using the web services. was developed using Java Australia. In its present state, Australian-related content of the EBI for this project were: The higher order groupings were > Automatic generation of collections servlets, JSP and JavaScript. Australian specific data is difficult to nucleotide and protein sequence selected in consultation with and submission to RDA: Data The web interface is deployed on > Identification of Australian isolate within the EBI databases, databases were created. A large ANDS whilst the NCBI taxonomy stored in the MySQL database was an Apache Tomcat web server research institutions: A list of particularly for the non-domain user. effort was made to divide and was used for species assignment converted into ANDS compliant on an ESX server with RedHat relevant Australian research The establishment of the EMBL describe the content of large databases as this taxonomy is used in the EBI RIF-CS xml (using an ANDS enterprise Linux 5.4. institutions conducting biological Australia Bioinformatics Resource at into many smaller datasets that are databases. supplied RIF-CS Java library) and The software is freely available for research was compiled. This list the University of Queensland has of potential interest to a wide and > Extraction of data from EBI made accessible to a RDA harvest download from Scourceforge under includes institutions identified provided the opportunity for linking varied range of researchers. databases: Australian species or data source. More than 13,000 the GNU General Public Licence. through ARC and NHMRC grant data of Australian interest deposited The collections encompass two types research institutions were used as collections were generated. http://sourceforge.net/projects/ information and having a National at the EBI, to Research Data Australia of Australian data: a) data submitted query items to interrogate the EBI ebi-rda-linkage/?source=directory Library of Australia (NLA) Party > Landing page for collections: (RDA), a cohesive repository of from Australian-based researchers; databases: Uniprot (http://www Persistent Identifier. Research The landing page is a webpage QFAB staff contact: research data collections enabling b) data associated with sets (and ebi.ac.uk/uniprot/) for protein institutions were then grouped by that is accessible from RDA and Dominique Gorse Project Manager Australian researchers to easily publish, subsets thereof) of Australian species.  sequences and ENA (http:// states and territories. acts as a link between RDA and discover, access and use research data. www.ebi.ac.uk/ena/) for nucleotide 26 27
  • 16. Publications We have supported our client’s successful grant applications worth over $56 million. The intellectual input of the QFAB Team provided clear bioinformatics strategies in their experimental design and valuable outcomes in the analyses. Recent publications in which QFAB Schroder, K., Irvine, K.M., Taylor, M.S., Bauer, D. C., Willadsen, K., Buske, F. feature selection and graphical BMC bioinformatics, 11, 498. untranslated regions. Nucleic Acids has collaborated include: Bokil, N.J., Lê Cao, K.-A., Masterman, A., Lê Cao, K. A., Bailey, T. L., displays for multiclass problems. Res, 39((6)), 2393-2403. Degrelle, S. A., Lê Cao, K. A., K-A., Labzin, L.I., Semple, C.A., Dellaire, G., & Boden, M. (2011). BMC bioinformatics, 12, 253. Muscat GE, Eriksson NA, Byth K, Loi Heyman, Y., Everts, R. E., Campion, Taft, R. J, Simons, C., Nahkuri, S., Kapetanovic, R.A., Fairbairn, L., Sorting the nuclear proteome. S, Graham D, Jindal S, Davis MJ, Lingwood, B. E., Henry, A. M., E., Richard, C., Ducroix-Crépy, C., Oey, H., Korbie, D. J., Mercer, T. R., Akalin, A., Faulkner, G.J., Baillie , Bioinformatics, 27(13), i7-14. Clyne C, Funder JW, Simpson ER, d’Emden, M. C., Fullerton, A. M., Tian, X. C., Lewin, H. A., Renard, J. P., Holst, J., Ritchie, W., Wong, J. J., J.K., Gongora, M., Daub, C.O., Ragan MA, Kuczek E, Fuller PJ, Tilley Herzig, V., Wood, D. L., Newell, F., Mortimer, R. H., Colditz, P. B., Robert-Granié, C., Hue, I. (2010). Rasko, J. E., Rokhsar, D. S., Degnan, Kawaji, H., McLachlan, G.J., Goldman, WD, Leedman PJ, Clarke CL. (2013). Chaumeil ,P. A., Kaas, Q., Binford, G. Lê Cao, K. A., Callaway, L. K. (2011). A small set of extra-embryonic genes B. M., Mattick, J. S. (2010). Nuclear- N., Grimmond, S.M., Carninci, P., Research Resource: Nuclear J., Nicholson, G. M, Gorse, D., King, Determinants of body fat in infants defines a new landmark for bovine localized tiny RNAs are associated Suzuki, H., Hayashizaki, Y., Lenhard, Receptors as Transcriptome: G. F. (2011). ArachnoServer 2.0, an of women with gestational diabetes embryo staging Reproduction with transcription initiation and B., Hume, D.A., Sweet, M.J (2012). Discriminant and Prognostic Value updated online resource for spider mellitus differ with fetal sex. Diabetes 141(1), 79-89. splice sites in metazoans. Nature Conservation and Divergence in in Breast Cancer. Mol Endocrinol toxin sequences and structures. Care, 34(12), 2581-2585. Structural & Molecular Biology, 17(8), Toll-like Receptor 4-regulated gene Lê Cao, K. A., Meugnier, E., & 27(2), 350-365. [Journal article]. Nucleic acids research, 1030-U1146. expression in primary human versus Choi, J., Davis, M. J., Newman, A. F., McLachlan, G. J. (2010). Integrative 39(Database issue), D653 - D657. Donald M. Gardiner, Megan C. mouse macrophages. Proceedings of & Ragan, M. A. (2010). A semantic mixture of experts to combine Shin, C. J., Davis, M. J., & Ragan, M. McDonald, Lorenzo Covarelli, Peter the National Academy of Sciences. Lê Cao, K.-A., & LeGall, C. (2011). web ontology for small molecules clinical factors and gene markers. A. (2009). Towards the mammalian S. Solomon, Anca G. Rusu, Mhairi Proc Natl Acad Sci 109(16), E944 - E953 Integration and variable selection of and their biological targets. J Chem Bioinformatics, 26(9), 1192-1198. interactome: Inference of a core Marshall, Kemal Kazan, Sukumar ‘omics’ data sets with PLS: a survey Inf Model, 50(5), 732-741. mammalian interaction set in mouse. Yao, F., Coquery, J., & Lê Cao, Mercer, T. R., Wilhelm, D., Dinger, Chakraborty, Bruce A. McDonald, Journal de la Société Francaise de Proteomics, 9(23), 5256-5266. K.-A. (2012). Independent Principal Davis, M. J., Sehgal, M. S., & M.E., Soldà, G., Korbie, D. J., Glazov, John M. Manners (2012). Comparative Statistique, 152(2). Component Analysis for biologically Ragan, M. A. (2010). Automatic, E. A., Truong, V., Schwenke, M., Shin, C. J., Wong, S., Davis, M. J., & Pathogenomics Reveals Horizontally meaningful dimension reduction Lê Cao, K. A., Boitard, S., & Besse, context-specific generation of Gene Simons, C., Matthaei, K.I., Saint, R., Ragan, M. A. (2009). Protein-protein Acquired Novel Virulence Genes of large biological data sets. BMC P. (2011). Sparse PLS discriminant Ontology slims. [Journal Article Koopman, P., Mattick, J. S. (2010). interaction as a predictor of subcellular in Fungi Infecting Cereal Hosts. bioinformatics, 13(1), 24. analysis: biologically relevant Research Support Non-U S Gov’t]. Expression of distinct RNAs from 3’ location. BMC Syst Biol, 3, 28. PLoS Pathog Sep, 8(9). 28 29
  • 17. www.qfab.org QFAB Bioinformatics Level 6, Queensland Bioscience Precinct The University of Queensland 306 Carmody Road St Lucia QLD 4067 Australia T +61 (0)7 3346 2604 F +61 (0)7 3346 2101 E contact@qfab.org