Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER. Issue 10 (20th August 2015)

• Record Type: Journal Article
• Authors: Chatzimichali, Eleni A.; Brent, Simon; Hutton, Benjamin; Perrett, Daniel; Wright, Caroline F.; Bevan, Andrew P.; Hurles, Matthew E.; Firth, Helen V.; Swaminathan, Ganesh J.
• Is Part Of: Human mutation. Volume 36:Issue 10(2015:Oct.)
• Page Start: 941
• Page End: 949
• Publication Date: 2015-08-20
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22842
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22842-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of thousands of anonymous consented patients worldwide. Matchmaking using DECIPHER has resulted in the discovery of many new syndromes and led to over 700 peer‐reviewed publications. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2n1bh29n" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>