Expanding the Pathway and Interaction Knowledge in Linked Life Data

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    Notes on slide 1

    Traditional thinking is that you need systems to describe the sequence: gene, proteins, ....What we need is a holistic view – disease in the context of the patient and the environmental factors; to link the information

    (Structure view) The Linked Life Data approach – “the slide is targeted to the bioinformaticians and present the type of data sources are integrated and could be queried”Gene and Proteins – custom RDF schemaInteraction and Pathways – BioPAX schemaDrugs – Schema is designed by Linked Open Drug DataOntologies and Thesauri – SKOSDocuments – a light weight schema

    (Behaviour view)

    Eh… it is still possible to get these answers in real time:Select all human genes, which code for proteins with known molecular interactions (as part of physiological process, like inflammation) and are analyzed with molecular techniques like ‘Transfection‘;Restrict the results just to gene or proteins which are known drug targets for a specific disease (like ‘Asthma’)

    Faceted browsing of the results.PREFIX rdf: PREFIX entrezgene: PREFIX uniprot: PREFIX rdfs: PREFIX skos: PREFIX gene: PREFIX core: PREFIX biopax2: PREFIX lifeskim: PREFIX umls: PREFIX pubmed: PREFIX drugbank: SELECT distinct ?geneName ?uniprotName ?targetFunction ?drugName ?molecularTechnique WHERE { ?interaction rdf:type biopax2:interaction . ?interaction biopax2:PARTICIPANTS ?p . ?p biopax2:PHYSICAL-ENTITY ?protein . ?protein skos:exactMatch ?uniprotaccession . ?uniprotaccessionuniprot:mnemonic ?uniprotName. ?uniprotaccessioncore:organism . ?geneidgene:hasDescription ?genedescription . ?geneidgene:uniprotAccession ?uniprotaccession . ?geneidgene:pubmed ?pmid . ?geneidentrezgene:hasOfficialSymbol ?geneName. ?pmidlifeskim:mentions ?umlsid . ?umlsidrdf:type . ?umlsidskos:prefLabel ?molecularTechnique . ?target skos:closeMatch ?geneid. ?target drugbank:specificFunction ?targetFunction. ?drug drugbank:target ?target. ?drug drugbank:genericName ?drugName . }LIMIT 10000

    Link the redundant/related information with SKOS predicates skos:exactMatch, skos:closeMatch, skos:broaderMatch, skos:narrowMatch

    The type of links we have found in 20 different sources

    Semantic annotation the most powerful linking technique

    Semantic annotation results; planning more

    Quantitative distribution of the data sources. – sequence databases are the biggest pie (gene/proteins) – 4 times dbpedia; ontology/thesauri (UMLS, OBO, etc) – not visible on the picture

    Favorites, Groups & Events

    Expanding the Pathway and Interaction Knowledge in Linked Life Data - Presentation Transcript

    1. Ontotext AD
      Expanding the Pathway and Interaction Knowledge in Linked Life Data
      10/23/2009
    2. Holistic View of the Scientific Problems
      Link data between different silos applications
      Put the information into context
      Analyze the knowledge locked into unstructured data
      Environmental Factors
      10/23/2009
      Semantic Web Challenge 2009
    3. The Challenge of the Holistic View
      Extreme amount of data
      Data is supported by different organizations
      Information is highly distributed and redundant
      Tons of flat file formats with special semantics
      Knowledge is locked in vast data silos
      Isolated communities which could not reach cross-domain understanding
      10/23/2009
      Semantic Web Challenge 2009
    4. Ontologies and Thesauri
      Unified Medical Language System®
      Drugs
      The Open Biomedical Ontologies
      Linked Open Drug Data
      Text-Analysis
      Interactions and Pathways
      Linked Life Data
      RDF Warehouse
      Biological Pathway Exchange
      Semantic Annotations
      Genes and Proteins
      Documents
      5 billion RDF statements!
    5. 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
      10/23/2009
      Semantic Web Challenge 2009
    6. Complex Cross-Domain Queries
      Semantic Web Challenge 2009
      10/23/2009
      Physiological
      process
      Molecular Technique
      filter human genes
      Gene
      participate in
      cause
      Molecular Interaction
      Disease
      analyzed by
      express protein
      Protein
      Drugs
      curated interaction
      treated
      with
      target
    7. Semantic Web Challenge 2009
      10/23/2009
      TODO Put a nice screenshot
    8. Instance Alignment
      Redundancy is removed by human crafted declarative rules
      Semantic Web Challenge 2009
      10/23/2009
      CD40L_HUMAN
      biopax-2:SHORT-NAME
      cpath:CPATH-94138
      CD40L_HUMAN
      biopax-2:DB
      biopax-2:XREF
      UNIPROT
      uniprot:mnemonic
      biopax-2:PHYSICAL-ENTITY
      biopax-2:ID
      uniprot:mnemonic
      TNF5_HUMAN
      P29965
      biopax-2:PHYSICAL-ENTITY
      uniprot:P29965
      uniprot:mnemonic
      TNFL5_HUMAN
      cpath:CPATH-LOCAL-8467065
      uniprot:mnemonic
      cpath:CPATH-LOCAL-8749236
      CD4L_HUMAN
    9. db
      X
      Y
      X
      Y
      ns-x: id
      ns-y: id
      id
      db: id
      X
      X
      Y
      accession
      term
      db: accession
      db: id
      Y
      text to describe name
      Y
      X
      Y
      X
      name
    10. Semantic Annotations
      Semantic Web Challenge 2009
      10/23/2009
      Respiration Disorders
      umls:C0035204
      Chronic Obstructive Airway Diseases
      broader
      Bronchial Diseases
      umls:C0006261
      Asthma and chronic obstructive pulmonary disease (COPD) are chronic airway diseases characterized by airflow obstruction. The beta(2)-adrenoceptormediates bronchodilatation in response to exogenous and endogenous beta-adrenoceptor agonists. Single nucleotide polymorphisms in the beta(2)-adrenoceptorgene (ADRB2) cause amino acid changes (e.g. Arg16Gly, Gln27Glu) that potentially alter receptor function. Recently, a large cohort study found no association between asthma susceptibility and beta(2)-adrenoceptor polymorphisms. In contrast, asthma phenotypes, such as asthma severity and bronchial hyperresponsiveness, have been associated with beta(2)-adrenoceptor polymorphisms.
      broaderTransitive
      COPD
      broader
      broader
      broaderTransitive
      Asthma
      mentions
      umls:C000496
      mentions
      journal
      pmid:17714090
      author
      Clinical and experimental pharmacology …
      Ian A Yang
    11. Semantic Annotations
      Multiple information extraction views
      High-recall annotations
      lifeskim:mentions
      705,338,334 statements
      High-precision annotations
      lifeskim:mentionsStrict
      263,323,164 statements
      Semantic Web Challenge 2009
      10/23/2009
      lifeskim:mentions
      rdfs:subPropertyOf
      lifeskim:mentionsStrict
    12. Distribution of RDF Triples
      10/23/2009
      Semantic Web Challenge 2009
    13. Conclusion
      Linked Life Data is a public and free service
      There are many more interesting queries
      Multi-paradigm search
      Concept co-occurrence
      Combine text with structured search
      Easy integrates information from the public linked data cloud
      Why not give a try?
      Semantic Web Challenge 2009
      10/23/2009
    14. Acknowledgement
      AstraZeneca
      Bosse Andersson
      LODD
      BioRDF
      HCLSIG
      Ontotext
      Deyan Peychev
      Georgi Georgiev
      Todor Primov
      OWLIM team
      Semantic Web Challenge 2009
      10/23/2009
      The development of PIKB and Linked Life Data is partially funded by FP7 215535

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