PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Issue 10 (31st August 2015)

• Record Type: Journal Article
• Authors: Buske, Orion J.; Girdea, Marta; Dumitriu, Sergiu; Gallinger, Bailey; Hartley, Taila; Trang, Heather; Misyura, Andriy; Friedman, Tal; Beaulieu, Chandree; Bone, William P.; Links, Amanda E.; Washington, Nicole L.; Haendel, Melissa A.; Robinson, Peter N.; Boerkoel, Cornelius F.; Adams, David; Gahl, William A.; Boycott, Kym M.; Brudno, Michael
• Is Part Of: Human mutation. Volume 36:Issue 10(2015:Oct.)
• Page Start: 931
• Page End: 940
• Publication Date: 2015-08-31
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22851
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22851-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>To enable the secure sharing of patient records between clinicians and rare disease scientists, we developed PhenomeCentral (<ext-link ext-link-type="uri" xlink:href="https://phenomecentral.org" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">https://phenomecentral.org</ext-link>), a restricted access portal for sharing de‐identified patient phenotype and genotype data to find similar cases around the world. PhenomeCentral identifies similar patients based on semantic similarity between clinical features, automatically prioritized genes from whole‐exome data, and candidate genes entered by the users, enabling both hypothesis‐free and hypothesis‐driven patient matchmaking. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2n1bh283" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>