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developing shared terminology and specifications for exchanging sequence variation

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Mission

The mission of the Variation Modelling Collaboration is to enable organizations to reliably share information associated with variation in biological sequences.

Current participants include:

  • Gil Alterovitz, Harvard Medical School/Boston Children’s Hospital, FHIR Genomics
  • Larry Babb, Sunquest, ClinGen
  • Karen Eilbeck, University of Utah
  • Gaston Fiore, Boston Children’s Hospital, FHIR Genomics
  • Bob Freimuth, Mayo Clinic, ClinGen, HL7/FHIR
  • Reece Hart, Invitae, GA4GH
  • Sarah Hunt, Ensembl
  • Brett Johnson, BCH, GA4GH, HL7/FHIR
  • David Kreda, Harvard Medical School, FHIR Genomics
  • Jennifer Lee, NCBI, ClinVar
  • Peter Robinson, Jackson Laboratory, HPO
  • Shawn Rynearson, University of Utah, UCGD

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