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Vassil  Momtchev Group Leader, Semantic Life Science Applications A Reason-Able View to the Web of Pathway Data 2009/10/08
Objectives WITH NO  2009/10/08 Bio-IT World, Hannover
A Typical Question? Select drugs related to asthma that are linked to a curated molecular interaction in the literature where the protein is known to cause inflammatory response… 2009/10/08 Bio-IT World, Hannover
A Typical Answer! ,[object Object],[object Object],[object Object],[object Object],[object Object],2009/10/08 Bio-IT World, Hannover
A Typical Question? Select all human genes, which code for proteins with known molecular interactions and are analyzed with molecular techniques like ‘Transfection‘; Restrict the results just to gene or proteins which are known drug targets… 2009/10/08 Bio-IT World, Hannover
Wrap-up: Typical Problems  ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],2009/10/08 Bio-IT World, Hannover
Agenda ,[object Object],[object Object],[object Object],[object Object],2009/10/08 Bio-IT World, Hannover
Who Are We? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Bio-IT World, Hannover 2009/10/08
What is Our Position? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Bio-IT World, Hannover 2009/10/08
Our Application Domains ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Bio-IT World, Hannover 2009/10/08
Linked Life Data  Pathway and Interaction Knowledge Base ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],2009/10/08 Bio-IT World, Hannover
Select drugs related to asthma that are linked to a curated molecular interaction in the literature where the protein is known to cause inflammatory response… 2009/10/08 Bio-IT World, Hannover
Select all human genes, which code for proteins with known molecular interactions and are analyzed with molecular techniques like ‘Transfection‘; Restrict the results just to gene or proteins which are known drug targets… 2009/10/08 Bio-IT World, Hannover
Holistic View of the Scientific Problems ,[object Object],[object Object],[object Object],[object Object],Environmental Factors 2009/10/08 Bio-IT World, Hannover
The Challenge of the Holistic View ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],2009/10/08 Bio-IT World, Hannover
RDF Technology 2009/10/08 Bio-IT World, Hannover ERBB2  HER2 CD340 Q4H1F1  Q4H1F2  Protein GO:0005023 EGF receptor activity receptor activity peroxisome receptor  ENSG00000141736  Gene 2064 Gene Ontology Term GO:  0004872 GO:  0005006 is_a is_a type type type type type type label label label label label label   database cross-reference  hasProtein hasProtein  hasGene hasGene
Linking Open Data Community Project  ,[object Object],[object Object],[object Object],2009/10/08 Bio-IT World, Hannover
LLD Integration Process Data Source Identification Flat files OBO files XML RDBMS RDF Special tailored transformer OBO to SKOS converter Custom XSLT RDBMS to RDF formatter RDF warehouse Reasoner Instance Mappings Semantic Annotations 2009/10/08 Bio-IT World, Hannover
Over 20 Different Sources Number of statements:   4.792.035.475 Number of explicit statements: 2.218.239.691 Number of entities:   370.230.951 2009/10/08 Bio-IT World, Hannover Data source Description RDF statements Disease Ontology Disease Ontology is a controlled  446,066 Human Phenotype Ontology The human phenotype ontology (HPO) intends 70,911 Symptom Ontology The symptom ontology was designed around 4,163 DrugBank The DrugBank database is a unique bioinformatics 493,794 Diseasome The diseasome website is a disease relationships  69,546 DailyMed DailyMed provides high quality information about  116,992 SIDER SIDER contains information on marketed medicines  96,272 BioGRID The Biological General Repository for Interaction Datasets  1,892,897 INOH INOH (Integrating Network Objects with Hierarchies)  432,456 CellMap The Cancer Cell Map contains selected  173,914 HPRD The Human Protein Reference Database 18,05,651 HumanCYC HumanCyc is a bioinformatics database that describes 341,225 IMID General Repository for Interaction Datasets. 154,408 IntAct IntAct provides a freely available, open source database 11,005,555 Reactome Reactome is a free, online, open-source, curated resource 2,538,793 NCI-Nature Nature pathway interaction database. 333,415 KEGG KEGG PATHWAY is a collection of manually drawn 18,128,735 Entrez-Gene Entrez Gene is a searchable database of genes  107,193,308 PubMed PubMed is a service of the U.S. National Library of Medicine 807,851,455 UniProt Major resource for protein sequences 1,252,667,885 UMLS Metathesaurus Database that contains information about biomedical 12,420,882 UMLS Semantic network Semantic categorization of terminology 1,368
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Schema Reasoning 2009/10/08 rdf:type broader umls:C0035204 inferred broader broaderTransitive Bio-IT World, Hannover COPD Bronchial Diseases Respiration Disorders umls:C0006261 umls:C0024117 Chronic Obstructive Airway Diseases
Instance Mapping biopax-2:SHORT-NAME biopax-2:XREF P29965 UNIPROT CD40L_HUMAN  cpath:CPATH-94138 cpath:CPATH-LOCAL-8467065 biopax-2:PHYSICAL-ENTITY biopax-2:ID biopax-2:DB biopax-2:PHYSICAL-ENTITY cpath:CPATH-LOCAL-8749236 uniprot:P29965 CD40L_HUMAN uniprot:mnemonic TNF5_HUMAN  uniprot:mnemonic TNFL5_HUMAN uniprot:mnemonic CD4L_HUMAN uniprot:mnemonic 2009/10/08 Bio-IT World, Hannover
X Y ns-x:  id ns-y:  id db id X Y db: id X Y accession db: id db:  accession X term Y Y X Y X text  to describe  name name 2009/10/08 Bio-IT World, Hannover Namespace mapping Reference node Mismatched identifiers Value dereference Transitive link Semantic Annotations
Semantic Annotations 2009/10/08 Bio-IT World, Hannover broader umls:C0035204 broader broaderTransitive COPD Bronchial Diseases Respiration Disorders umls:C0006261 Chronic Obstructive Airway Diseases This an example text of document that mentions COPD disease hasDocumentText mentions Natural Language Processing Natural Language Processing Natural Language Processing Natural Language Processing
Semantic Annotations #2 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Bio-IT World, Hannover 2009/10/08
Bio-IT World, Hannover 2009/10/08
Bio-IT World, Hannover 2009/10/08
Linked Life Data Service ,[object Object],[object Object],[object Object],[object Object],[object Object],2009/10/08 Bio-IT World, Hannover
Conclusion ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Bio-IT World, Hannover 2009/10/08
Acknowledgement ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Bio-IT World, Hannover 2009/10/08 The development of PIKB and Linked Life Data is partially funded by FP7 215535
Questions ,[object Object],Bio-IT World, Hannover 2009/10/08

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A Reason Able View To The Web Of Pathway Data

  • 1. Vassil  Momtchev Group Leader, Semantic Life Science Applications A Reason-Able View to the Web of Pathway Data 2009/10/08
  • 2. Objectives WITH NO 2009/10/08 Bio-IT World, Hannover
  • 3. A Typical Question? Select drugs related to asthma that are linked to a curated molecular interaction in the literature where the protein is known to cause inflammatory response… 2009/10/08 Bio-IT World, Hannover
  • 4.
  • 5. A Typical Question? Select all human genes, which code for proteins with known molecular interactions and are analyzed with molecular techniques like ‘Transfection‘; Restrict the results just to gene or proteins which are known drug targets… 2009/10/08 Bio-IT World, Hannover
  • 6.
  • 7.
  • 8.
  • 9.
  • 10.
  • 11.
  • 12. Select drugs related to asthma that are linked to a curated molecular interaction in the literature where the protein is known to cause inflammatory response… 2009/10/08 Bio-IT World, Hannover
  • 13. Select all human genes, which code for proteins with known molecular interactions and are analyzed with molecular techniques like ‘Transfection‘; Restrict the results just to gene or proteins which are known drug targets… 2009/10/08 Bio-IT World, Hannover
  • 14.
  • 15.
  • 16. RDF Technology 2009/10/08 Bio-IT World, Hannover ERBB2 HER2 CD340 Q4H1F1 Q4H1F2 Protein GO:0005023 EGF receptor activity receptor activity peroxisome receptor ENSG00000141736 Gene 2064 Gene Ontology Term GO: 0004872 GO: 0005006 is_a is_a type type type type type type label label label label label label   database cross-reference  hasProtein hasProtein  hasGene hasGene
  • 17.
  • 18. LLD Integration Process Data Source Identification Flat files OBO files XML RDBMS RDF Special tailored transformer OBO to SKOS converter Custom XSLT RDBMS to RDF formatter RDF warehouse Reasoner Instance Mappings Semantic Annotations 2009/10/08 Bio-IT World, Hannover
  • 19. Over 20 Different Sources Number of statements: 4.792.035.475 Number of explicit statements: 2.218.239.691 Number of entities: 370.230.951 2009/10/08 Bio-IT World, Hannover Data source Description RDF statements Disease Ontology Disease Ontology is a controlled 446,066 Human Phenotype Ontology The human phenotype ontology (HPO) intends 70,911 Symptom Ontology The symptom ontology was designed around 4,163 DrugBank The DrugBank database is a unique bioinformatics 493,794 Diseasome The diseasome website is a disease relationships 69,546 DailyMed DailyMed provides high quality information about 116,992 SIDER SIDER contains information on marketed medicines 96,272 BioGRID The Biological General Repository for Interaction Datasets 1,892,897 INOH INOH (Integrating Network Objects with Hierarchies) 432,456 CellMap The Cancer Cell Map contains selected 173,914 HPRD The Human Protein Reference Database 18,05,651 HumanCYC HumanCyc is a bioinformatics database that describes 341,225 IMID General Repository for Interaction Datasets. 154,408 IntAct IntAct provides a freely available, open source database 11,005,555 Reactome Reactome is a free, online, open-source, curated resource 2,538,793 NCI-Nature Nature pathway interaction database. 333,415 KEGG KEGG PATHWAY is a collection of manually drawn 18,128,735 Entrez-Gene Entrez Gene is a searchable database of genes 107,193,308 PubMed PubMed is a service of the U.S. National Library of Medicine 807,851,455 UniProt Major resource for protein sequences 1,252,667,885 UMLS Metathesaurus Database that contains information about biomedical 12,420,882 UMLS Semantic network Semantic categorization of terminology 1,368
  • 20.
  • 21. Instance Mapping biopax-2:SHORT-NAME biopax-2:XREF P29965 UNIPROT CD40L_HUMAN cpath:CPATH-94138 cpath:CPATH-LOCAL-8467065 biopax-2:PHYSICAL-ENTITY biopax-2:ID biopax-2:DB biopax-2:PHYSICAL-ENTITY cpath:CPATH-LOCAL-8749236 uniprot:P29965 CD40L_HUMAN uniprot:mnemonic TNF5_HUMAN uniprot:mnemonic TNFL5_HUMAN uniprot:mnemonic CD4L_HUMAN uniprot:mnemonic 2009/10/08 Bio-IT World, Hannover
  • 22. X Y ns-x: id ns-y: id db id X Y db: id X Y accession db: id db: accession X term Y Y X Y X text to describe name name 2009/10/08 Bio-IT World, Hannover Namespace mapping Reference node Mismatched identifiers Value dereference Transitive link Semantic Annotations
  • 23. Semantic Annotations 2009/10/08 Bio-IT World, Hannover broader umls:C0035204 broader broaderTransitive COPD Bronchial Diseases Respiration Disorders umls:C0006261 Chronic Obstructive Airway Diseases This an example text of document that mentions COPD disease hasDocumentText mentions Natural Language Processing Natural Language Processing Natural Language Processing Natural Language Processing
  • 24.
  • 27.
  • 28.
  • 29.
  • 30.