Heritability, Weak Effects, and Rare Variants in Genomewide Association Studies

被引：3

作者：

Cambien, Francois ^{[1
]}

机构：

[1] Univ Paris 06, INSERM UMRS 937, F-75013 Paris, France

来源：

CLINICAL CHEMISTRY | 2011年 / 57卷 / 09期

关键词：

CORONARY-ARTERY-DISEASE; NEWLY IDENTIFIED LOCI; WIDE ASSOCIATION; HEART-FAILURE; HUMAN HEIGHT; RISK; COHORTS; SORT1;

D O I：

10.1373/clinchem.2010.155655

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

100118 [医学信息学]; 100208 [临床检验诊断学];

摘要：

In less than 5 years, genomewide association studies (GWASs)(2) have completely changed the landscape of human genetic research. Our increasing knowledge of the human genome sequence and its variation (http://hapmap.ncbi.nlm.nih.gov/) and technological advances in the design of genotyping microarrays have been instrumental in this evolution; however, an essential factor for success has been the use of large international collaborations for assembling studies that encompass genomewide data for tens or hundreds of thousands of individuals. The number of firmly replicated trait-associated loci that have been identified in GWASs is impressive (http://www.genome.gov/gwastudies), but the contribution of individual single-nucleotide polymorphisms (SNPs) to the studied phenotypes is weak, with rare exceptions. In this article, this aspect of GWASs and some of its implications are discussed. (C) 2011 American Association for Clinical Chemistry

引用

页码：1263 / 1266

页数：4

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