Massively Parallel Genetics-Reference-Cited by-同舟云学术

Massively Parallel Genetics

Published:2016-06-01 Issue:2 Volume:203 Page:617-619
ISSN:1943-2631
Container-title:Genetics
language:en
Short-container-title:

Author:

Shendure Jay¹²¹,Fields Stanley¹²³

Affiliation:

1. Department of Genome Sciences and

2. Department of Medicine , University of Washington, Seattle, Washington 98115

3. Howard Hughes Medical Institute, Seattle, Washington 98115

Abstract

Abstract 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.”

Publisher

Oxford University Press (OUP)

Subject

Genetics

Link

https://academic.oup.com/genetics/article-pdf/203/2/617/42154932/genetics0617.pdf

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