The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Philippakis, A.A.; Azzariti, D.R.; Beltran, S.; Brookes, A.J.; Brownstein, C.A.; Brudno, M.; ... ; Rehm, H.L. (2015)

Article / Letter to editor

• matchmaking
• rare disease
• genomic API
• gene discovery
• Matchmaker Exchange
• GA4GH, IRDiRC

• All authors: Philippakis, A.A.; Azzariti, D.R.; Beltran, S.; Brookes, A.J.; Brownstein, C.A.; Brudno, M.; Brunner, H.G.; Buske, O.J.; Carey, K.; Doll, C.; Dumitriu, S.; Dyke, S.O.M.; Dunnen, J.T. den; Firth, H.V.; Gibbs, R.A.; Girdea, M.; Gonzalez, M.; Haendel, M.A.; Hamosh, A.; Holm, I.A.; Huang, L.; Hurles, M.E.; Hutton, B.; Krier, J.B.; Misyura, A.; Mungall, C.J.; Paschall, J.; Paten, B.; Robinson, P.N.; Schiettecatte, F.; Sobreira, N.L.; Swaminathan, G.J.; Taschner, P.E.; Terry, S.F.; Washington, N.L.; Zuchner, S.; Boycott, K.M.; Rehm, H.L.
• Date: 2015-10-31
• Journal: Human Mutation
• Volume: 36
• Issue: 10
• Pages: 915 - 921
• DOI: doi:10.1002/humu.22858