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Soichi Ogishima edited this page May 20, 2014 · 25 revisions

RDF model

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Ensembl

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UniProt

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Identifiers.org

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GFVO

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  • After Joachim releasing updated shell tool, Soichi will try to run it on VCF files.

Phenotype

  • Designed a fundamental data flow from SS-MIX2 standardized storage (SS-MIX2 messages) to SS-MIX2 RDF storage (SS-MIX2 RDF) considering security, privacy, and access control.
  • Designed a fundamental structure of RDF model for a SS-MIX2 message stored in SS-MIX2 standardized storage. Primary ID is a patient ID in SS-MIX2 RDF model.
  • Data access was designed to be controlled by separating RDFs into several graphs depending on access level.
  • Terms are totally controlled in SS-MIX2 message by referring codes. These terms should be mapped to those in appropriate ontology.
  • Designed a fundamental framework for research utilizing EHR data and genomic data; federated search for SS-MIX2 RDF storage, clinical knowledge RDF storage, and genomic RDF storage.
  • Made a use case linking SS-MIX2 RDF data and genomic RDF data.
  • Hope a genomic RDF links a SS-MIX2 RDF via variation(-disease relationships) data.
  • How a patient ID will be modeled in a "personal" genomic RDF?
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