Exome sequencing as a tool for Mendelian disease gene discovery

被引：1191

作者：

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

Ng, Sarah B. ^{[2
]}

Bigham, Abigail W. ^{[1
,3
]}

Tabor, Holly K. ^{[1
,4
]}

Emond, Mary J. ^{[5
]}

Nickerson, Deborah A. ^{[2
]}

Shendure, Jay ^{[2
]}

机构：

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

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

[3] Univ Michigan, Dept Anthropol, Ann Arbor, MI 48014 USA

[4] Seattle Childrens Res Inst, Treuman Katz Ctr Pediat Bioeth, Seattle, WA 98101 USA

[5] Univ Washington, Dept Biostat, Seattle, WA 98195 USA

来源：

NATURE REVIEWS GENETICS | 2011年 / 12卷 / 11期

基金：

美国国家卫生研究院;

关键词：

MULTIPLEX AMPLIFICATION; MENTAL-RETARDATION; PROTEIN FUNCTION; RARE VARIANTS; MUTATION-RATE; CAPTURE; SELECTION; DNA; HETEROGENEITY; ASSOCIATION;

D O I：

10.1038/nrg3031

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Exome sequencing-the targeted sequencing of the subset of the human genome that is protein coding-is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits that have proved to be intractable to conventional gene-discovery strategies. Over the past 2 years, experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders. Additionally, exome sequencing is being adapted to explore the extent to which rare alleles explain the heritability of complex diseases and health-related traits. These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.

引用

页码：745 / 755

页数：11

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