Participant‐Driven Matchmaking in the Genomic Era. Issue 10 (27th August 2015)

• Record Type: Journal Article
• Authors: Lambertson, Katherine F.; Damiani, Stephen A.; Might, Matthew; Shelton, Robert; Terry, Sharon F.
• Is Part Of: Human mutation. Volume 36:Issue 10(2015:Oct.)
• Page Start: 965
• Page End: 973
• Publication Date: 2015-08-27
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22852
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22852-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Genomic matchmaking networks, which seek to link patients with similar genotypes and/or phenotypes, play an important role in confirming diagnoses made by whole‐genome and ‐exome sequencing. We argue that matchmaking efforts led by affected individuals and their families provide a unique opportunity to greatly increase the size of these networks, and simultaneously increase the quantity and specificity of available data. We propose a participant‐led technology solution to scale participant‐led efforts, known as the Platform for Engaging Everyone Responsibly (PEER). <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2n1bh1nn" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>