Núria Queralt Rosinach

8 Abonné

-- Integration of heterogeneous data using Semantic Web Technologies. -- Analysis and support in the interpretation of data coming from 'omics' disciplines (Metabolomics and Genomics mainly). -- BioMart implementation of existing databases to access and explore the data. -- Development of new bioinformatics tools and maintenance and update of external software and licenses. -- Programming in "R" and "Bioconductor" platforms. -- Development of Web sites. -- Management of analysis tools in bioinformatics servers with "open source" Linux operative systems. -- Administration of Bioinformatics servers running under Linux -- Bioinformatics tools & toolkits: R:Bioconductor, internal too...

knowledge graph ngly1 disgenet hypothesis generation ngly1-deficiency rare disease drug repurposing nanopublications translational research open phacts semantic web rdf knowledge discovery machine learning biohackathon r gene-disease associations drug discovery linked data life sciences lod phenotypes biomedicine sparql gene disease associations bioinformatics text mining genetic disease translational research

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Núria Queralt Rosinach

Présentations

DisGeNET: A discovery platform for the dynamical exploration of human diseases and their genes

DisGeNET Tutorial SWAT4LS 2015-12-07

disgenet2r: The DisGeNET R package

Discovery Over a NGLY1 deficiency Knowledge Graph

NGLY1 Deficiency Knowledge Graph for Hypothesis Generation and Drug Repurposing

Structured Review and a Datascope Library: Surfing Waves of Knowledge Between BioThings

Documents

DisGeNET: a discovery platform to support translational research and drug discovery

J’aime

FAIR Data Prototype - Interoperability and FAIRness through a novel combination of Web technologies

Linked Data Tutorial

On the frontier of genotype-2-phenotype data integration

Semantic Web Methodologies, Best Practices and Ontology Engineering Applied to Internet of Things