An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

被引：77

作者：

Zeggini, E ^{[1
]}

Rayner, W

Morris, AP

Hattersley, AT

Walker, M

Hitman, GA

Deloukas, P

Cardon, LR

McCarthy, MI

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

[2] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[3] Peninsula Med Sch, Ctr Mol Genet, Exeter, Devon, England

[4] Univ Newcastle Upon Tyne, Sch Clin Med Sci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[5] Barts & London Queen Marys Sch Med & Dent, Ctr Diabet & Metab Med, London, England

[6] Wellcome Trust Sanger Inst, Hinxton, England

来源：

NATURE GENETICS | 2005年 / 37卷 / 12期

关键词：

D O I：

10.1038/ng1670

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A substantial investment has been made in the generation of large public resources designed to enable the identification of tag SNP sets, but data establishing the adequacy of the sample sizes used are limited. Using large-scale empirical and simulated data sets, we found that the sample sizes used in the HapMap project are sufficient to capture common variation, but that performance declines substantially for variants with minor allele frequencies of < 5%.

引用

页码：1320 / 1322

页数：3

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