Exome sequencing and the genetic basis of complex traits

被引：291

作者：

Kiezun, Adam ^{[1
,2
]}

Garimella, Kiran ^{[2
]}

Do, Ron ^{[2
,3
]}

Stitziel, Nathan O. ^{[2
,4
]}

Neale, Benjamin M. ^{[2
,3
,5
]}

McLaren, Paul J. ^{[1
,2
]}

Gupta, Namrata ^{[2
]}

Sklar, Pamela ^{[6
,7
]}

Sullivan, Patrick F. ^{[8
]}

Moran, Jennifer L. ^{[2
]}

Hultman, Christina M. ^{[9
]}

Lichtenstein, Paul ^{[9
]}

Magnusson, Patrik ^{[9
]}

Lehner, Thomas

Shugart, Yin Yao ^{[10
]}

Price, Alkes L. ^{[2
,11
,12
]}

de Bakker, Paul I. W. ^{[1
,2
,13
,14
]}

Purcell, Shaun M. ^{[5
]}

Sunyaev, Shamil R. ^{[1
,2
]}

机构：

[1] Harvard Univ, Sch Med, Dept Med, Div Genet,Brigham & Womens Hosp, Boston, MA 02114 USA

[2] Broad Inst MIT & Harvard, Cambridge, MA USA

[3] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[4] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Cardiovasc Med, Boston, MA 02115 USA

[5] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

[6] Mt Sinai Sch Med, Dept Psychiat, Friedman Brain Inst, New York, NY USA

[7] Mt Sinai Sch Med, Inst Genom & Multiscale Biol, New York, NY USA

[8] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA

[9] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[10] NIMH, Div Neurosci & Basic Behav Sci, Bethesda, MD 20892 USA

[11] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[12] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[13] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[14] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands

来源：

NATURE GENETICS | 2012年 / 44卷 / 06期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; ALLELE FREQUENCY-SPECTRUM; RARE VARIANTS; POPULATION-STRUCTURE; PROTEIN FUNCTION; COMMON DISEASES; PLASMA-LEVELS; MUTATIONS; SELECTION;

D O I：

10.1038/ng.2303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：623 / 630

页数：8

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