Rare Variant Association Analysis Methods for Complex Traits

被引：181

作者：

Asimit, Jennifer ^{[1
]}

Zeggini, Eleftheria ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England

来源：

ANNUAL REVIEW OF GENETICS, VOL 44 | 2010年 / 44卷

基金：

英国惠康基金;

关键词：

1,000 Genomes Project; collapsing method; imputation; sequencing; SAMPLE-SIZE; COMMON; DISEASE; GENES; SUSCEPTIBILITY; CONTRIBUTE; TESTS; POWER;

D O I：

10.1146/annurev-genet-102209-163421

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There has been increasing interest in rare variants and their association with disease, and several rare variant disease associations have already been detected. The usual association tests for common variants are underpowered for detecting variants of lower frequency, so alternative approaches are required. In addition to reviewing the association analysis methods for rare variants, we discuss the limitations of genome-wide association studies in identifying rare variants and the problems that arise in the imputation of rare variants.

引用

页码：293 / 308

页数：16

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