larrybabb / vmc

developing shared terminology and specifications for exchanging sequence variation

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

Public-access documents:

• GitHub repo
• Google Drive folder
• Mailing list
• Wiki.