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Development of biomedical schema for data exchange for GA4GH and GEM-Japan

Project Number: 21

Research area alignment

  • ELIXIR platforms: Interop (Ontology, Data sharing) ELIXIR communities: Rare disease, CNVs, Federated Data


Submitter: Mayumi Kamada


  • Mayumi Kamada


  • Mayumi Kamada, Toshiaki Katayama

Nominated participant(s)

  • Mayumi Kamada Soichi Ogishima Toyofumi Fujiwara Shuichi Kawashima Toshiaki Katayama

Expected outcomes

  • Better alignment of ontologies between Med2RDF and SEPIO for describing evidence of clinical significance related to human diseases including rare diseases and structural variations.

Expected audience

  • Ontology experts, Human genetics and biomedical database developers, and Bio (medical) informatician with experience in clinical interpretation of genomic medicine.

Number of expected hacking days: 4

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