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A Semantic Web Platform
for Genomics Experiments
Emily Merrill1
, Stéphane Corlosquet1
, Paolo Ciccarese1,2
,
Tim Clark1,2,3
& Sudeshna Das1,2
1
Massachusetts General Hospital
2
Harvard Medical School
3
University of Manchester
†Authors contributed equally
What is eXframe?
• reusable framework for creating online data
repositories
• upgraded version based on Drupal 7 (drupal.org)
• structured annotation of experiments, bio-materials and
assays
• publishes Semantic Web data automatically (RDF &
SPARQL endpoint)
• first instance of upgraded version - Stem Cell
Commons (http://stemcellcommons.org)
exFrame: a Semantic Web Platform for Genomics Experiments
Architecture
• re-factored second generation of
eXframe
• updated experimental model
mapped to ontologies
• Drupal RDF modules used to
generate RDF
• RDF store (SPARQL endpoint)
powered by ARC2 PHP library
Data Model
• experiment (obi:investigation);
meta-data mapped to Dublin
Core (dc)
• researchers & citations mapped
to foaf & bibo respectively
• experiments are comprised of
bioassays (obo:assay)
• bioassays have replicates
(efo:replicate)
• replicates are associated with
biomaterials (obo:specimen)
Biomaterials
• biomaterials are deeply annotated, key examples:
- organism (NCBI Taxonomy)
- tissue (FMA: Foundation Model of Anatomy)
- cell type (CL: Cell Type ontology)
- disease state (DO: Disease ontology)
- treatment compound (CheBI: Chemical Entities of
Biological Interest)
• )
Sample RDF from
Stem Cell Commons
Stem Cell Commons
SPARQL queries
• flexible query system with
SPARQL
• allows graph queries
• integration with other endpoints
• sample query on right: “find
experiments done on mouse,
hematopoietic stem cells”.
Security
• Stem Cell Commons: selected experiments are accessible
only to researchers from Harvard Stem Cell Institute
• created two stores:
- public with limited data
- private with all data
Conclusion
• groups & institutions can create databases simply by
configuring eXframe
• structured repository serves as institutional memory
and facilitates publication
• automatic RDF generation & SPARQL endpoint lowers
barrier to Semantic Web adoption

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exFrame: a Semantic Web Platform for Genomics Experiments

  • 1. A Semantic Web Platform for Genomics Experiments Emily Merrill1 , Stéphane Corlosquet1 , Paolo Ciccarese1,2 , Tim Clark1,2,3 & Sudeshna Das1,2 1 Massachusetts General Hospital 2 Harvard Medical School 3 University of Manchester †Authors contributed equally
  • 2. What is eXframe? • reusable framework for creating online data repositories • upgraded version based on Drupal 7 (drupal.org) • structured annotation of experiments, bio-materials and assays • publishes Semantic Web data automatically (RDF & SPARQL endpoint) • first instance of upgraded version - Stem Cell Commons (http://stemcellcommons.org)
  • 4. Architecture • re-factored second generation of eXframe • updated experimental model mapped to ontologies • Drupal RDF modules used to generate RDF • RDF store (SPARQL endpoint) powered by ARC2 PHP library
  • 5. Data Model • experiment (obi:investigation); meta-data mapped to Dublin Core (dc) • researchers & citations mapped to foaf & bibo respectively • experiments are comprised of bioassays (obo:assay) • bioassays have replicates (efo:replicate) • replicates are associated with biomaterials (obo:specimen)
  • 6. Biomaterials • biomaterials are deeply annotated, key examples: - organism (NCBI Taxonomy) - tissue (FMA: Foundation Model of Anatomy) - cell type (CL: Cell Type ontology) - disease state (DO: Disease ontology) - treatment compound (CheBI: Chemical Entities of Biological Interest) • )
  • 7. Sample RDF from Stem Cell Commons Stem Cell Commons
  • 8. SPARQL queries • flexible query system with SPARQL • allows graph queries • integration with other endpoints • sample query on right: “find experiments done on mouse, hematopoietic stem cells”.
  • 9. Security • Stem Cell Commons: selected experiments are accessible only to researchers from Harvard Stem Cell Institute • created two stores: - public with limited data - private with all data
  • 10. Conclusion • groups & institutions can create databases simply by configuring eXframe • structured repository serves as institutional memory and facilitates publication • automatic RDF generation & SPARQL endpoint lowers barrier to Semantic Web adoption