Uncovering the roles of rare variants in common disease through whole-genome sequencing

被引：823

作者：

Cirulli, Elizabeth T. ^{[1
]}

Goldstein, David B. ^{[1
]}

机构：

[1] Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

来源：

NATURE REVIEWS GENETICS | 2010年 / 11卷 / 06期

基金：

美国国家卫生研究院;

关键词：

WIDE ASSOCIATION SCAN; CHRONIC HEPATITIS-C; MACULAR DEGENERATION; COLORECTAL-CANCER; GENETIC-VARIATION; COMPLEX DISEASES; ABACAVIR HYPERSENSITIVITY; MISSING HERITABILITY; STRUCTURAL VARIATION; SUSCEPTIBILITY LOCI;

D O I：

10.1038/nrg2779

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Although genome-wide association (GWA) studies for common variants have thus far succeeded in explaining only a modest fraction of the genetic components of human common diseases, recent advances in next-generation sequencing technologies could rapidly facilitate substantial progress. This outcome is expected if much of the missing genetic control is due to gene variants that are too rare to be picked up by GWA studies and have relatively large effects on risk. Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification.

引用

页码：415 / 425

页数：11

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