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Massively Parallel Genetics
Author(s) -
Jay Shendure,
Stanley Fields
Publication year - 2016
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1534/genetics.115.180562
Subject(s) - biology , massively parallel , identification (biology) , genetics , trait , genetic variation , human genetics , disease , variation (astronomy) , human disease , computational biology , gene , evolutionary biology , computer science , medicine , botany , physics , pathology , parallel computing , astrophysics , programming language
Human genetics has historically depended on the identification of individuals whose natural genetic variation underlies an observable trait or disease risk. Here we argue that new technologies now augment this historical approach by allowing the use of massively parallel assays in model systems to measure the functional effects of genetic variation in many human genes. These studies will help establish the disease risk of both observed and potential genetic variants and to overcome the problem of "variants of uncertain significance."

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