The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Author(s):
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 (0000-0002-6304-1710); 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.
Published
2015
Publication type
Article / Letter to editor
matchmakingrare diseasegenomic APIgene discoveryMatchmaker ExchangeGA4GH, IRDiRC
Date issued
2015-10-31
Language
English
Is part of
Human Mutation (2015), Vol. 36, no. 10, p. 915-921
hdl
1887/100718
doi
10.1002/humu.22858