The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Issue 10 (17th September 2015)

• Record Type: Journal Article
• Authors: Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O.M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A.; Hamosh, Ada; Holm, Ingrid A.; Huang, Lijia; Hurles, Matthew E.; Hutton, Ben; Krier, Joel B.; Misyura, Andriy; Mungall, Christopher J.; Paschall, Justin; Paten, Benedict; Robinson, Peter N.; Schiettecatte, François; Sobreira, Nara L.; Swaminathan, Ganesh J.; Taschner, Peter E.; Terry, Sharon F.; Washington, Nicole L.; Züchner, Stephan; Boycott, Kym M.; Rehm, Heidi L.;
• Is Part Of: Human mutation. Volume 36:Issue 10(2015:Oct.)
• Page Start: 915
• Page End: 921
• Publication Date: 2015-09-17
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22858
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22858-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The Matchmaker Exchange (MME) includes representatives from the founding organizations and databases supporting or intending to support matchmaking services. Collaborative work has focused on both the technical aspects of data sharing, as well as policy considerations. This work has resulted in version 1.0 of a MME API, a set of requirements for qualifying as a MME service, and a user agreement for querying the MME. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2n1bh15x" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>