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The mission of the Variation Modelling Collaboration is to enabling the effective and reliable transmission of sequence variants by harmonizing concepts and terminology and by developing specifications for the exchange of these data.

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; cell: 415-830-6699
• Sarah Hunt, Ensembl
• Brett Johnson, BCH, GA4GH, HL7/FHIR 978 500-1891
• David Kreda, Harvard Medical School, FHIR Genomics
• Jennifer Lee, NCBI, ClinVar
• Peter Robinson, Jackson Laboratory, HPO; cell 860 990 3130
• Shawn Rynearson, University of Utah, UCGD

Public-access documents:

• GitHub repo
• Google Drive folder
• Mailing list