Mendelian Gene Discovery: Fast and Furious with No End in Sight

被引：179

作者：

Bamshad, Michael J. ^{[1
,2
,3
]}

Nickerson, Deborah A. ^{[2
,3
]}

Chong, Jessica X. ^{[1
,3
]}

机构：

[1] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

[2] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[3] Brotman Baty Inst Precis Med, Seattle, WA 98195 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2019年 / 105卷 / 03期

关键词：

RARE; MUTATIONS; VARIANTS;

D O I：

10.1016/j.ajhg.2019.07.011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of similar to 6,000-13,000 MCs yet to be delineated will require both technical and computational innovation, but will rely to a larger extent on meaningful data sharing.

引用

页码：448 / 455

页数：8

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