The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles. Issue 10 (17th September 2015)

• Record Type: Journal Article
• Authors: Buske, Orion J.; Schiettecatte, François; Hutton, Benjamin; Dumitriu, Sergiu; Misyura, Andriy; Huang, Lijia; Hartley, Taila; Girdea, Marta; Sobreira, Nara; Mungall, Chris; Brudno, Michael
• Is Part Of: Human mutation. Volume 36:Issue 10(2015:Oct.)
• Page Start: 922
• Page End: 927
• Publication Date: 2015-09-17
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22850
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22850-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The Matchmaker Exchange API defines a protocol and data format for exchanging phenotype and genotype profiles between patient databases, in order to facilitate the identification of additional cohorts and increase the rate with which rare diseases can be researched and diagnosed. The API is straightforward and flexible in order to simplify its adoption on a large number of data types and workflows. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2n1bh31r" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>