Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

被引：573

作者：

Pe'er, Itsik ^{[2
]}

Yelensk, Roman ^{[3
,5
]}

Altshuler, David ^{[1
,3
,4
,6
,7
]}

Daly, Mark J. ^{[1
,3
,8
]}

机构：

[1] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA

[2] Columbia Univ, Dept Comp Sci, New York, NY 10027 USA

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

[4] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA

[5] Harvard MJT, Div Hlth Sci & Technol, Cambridge, MA USA

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

[7] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[8] Harvard Univ, Sch Med, Dept Med, Boston, MA 02115 USA

来源：

GENETIC EPIDEMIOLOGY | 2008年 / 32卷 / 04期

关键词：

human genetics; association studies; testing burden;

D O I：

10.1002/gepi.20303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genomewide association studies are an exciting strategy in genetics, recently becoming feasible and harvesting many novel genes linked to multiple phenotypes. Determining the significance of results in the face of testing a genomewide set of multiple hypotheses, most of which are producing noisy, null-distributed association signals, presents a challenge to the wide community of association researchers. Rather than each study engaging in independent evaluation of significance standards, we have undertaken the task of developing such standards for genomewide significance, based on data collected by the International Haplotype Map Consortium. We report an estimated testing burden of a million independent tests genomewide in Europeans, and twice that number in Africans. We further identify the sensitivity of the testing burden to the required significance level, with implications to staged design of association studies.

引用

页码：381 / 385

页数：5

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