Rare Variant Association Analysis Methods for Complex Traits

被引:177
|
作者
Asimit, Jennifer [1 ]
Zeggini, Eleftheria [1 ]
机构
[1] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England
来源
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
收藏
页码:293 / 308
页数:16
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