Mendelian disorders and multifactorial traits: the big divide or one for all?

被引：51

作者：

Antonarakis, Stylianos E. ^{[1
,2
]}

Chakravarti, Aravinda ^{[3
]}

Cohen, Jonathan C. ^{[4
]}

Hardy, John ^{[5
,6
]}

机构：

[1] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

[2] Univ Hosp Geneva, CH-1211 Geneva, Switzerland

[3] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Ctr Complex Dis Genom, Baltimore, MD 21205 USA

[4] Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA

[5] Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[6] Inst Neurol, Reta Lilla Weston Labs, London WC1N 3BG, England

来源：

NATURE REVIEWS GENETICS | 2010年 / 11卷 / 05期

基金：

英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; IDENTIFIES VARIANTS; SEQUENCES; DISEASE; CLU; MAP;

D O I：

10.1038/nrg2793

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

For the past century, Mendelian and multifactorial traits have existed at opposite ends of the disease spectrum in humans. Furthermore, the recent emphasis on genome-wide association studies for uncovering variants that underlie common diseases has risked deepening the divide - or has it? Four experienced human geneticists express their views on the changing landscape of human disease studies and the impact of new technologies and study designs on the age-old aim of connecting a genomic variant with its phenotypic consequences.

引用

页码：380 / 384

页数：5

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