The effect of next-generation sequencing technology on complex trait research

被引：38

作者：

Day-Williams, Aaron G. ^{[1
]}

Zeggini, Eleftheria ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1HH, England

来源：

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION | 2011年 / 41卷 / 05期

基金：

英国惠康基金;

关键词：

Complex traits; gene mapping; genetics; next-generation sequencing; study design; SHORT READ ALIGNMENT; RARE VARIANTS; CANCER GENOME; DNA; ELECTROPHORESIS; SEPARATION; RESOLUTION; MUTATIONS; DIAGNOSIS; CAPTURE;

D O I：

10.1111/j.1365-2362.2010.02437.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P>Background Advances in the understanding of complex trait genetics have always been enabled by advances in genomic technology. Next-generation sequencing (NGS) is set to revolutionize the way complex trait genetics research is carried out. Results NGS has multiple applications in the field of human genetics, but is accompanied by substantial study design, analysis and interpretation challenges. This review discusses key aspects of study design considerations, data handling issues and required analytical developments. We also highlight early successes in mapping genetic traits using NGS. Conclusion NGS opens the entire spectrum of genomic alterations for the genetic analysis of complex traits and there are early publications illustrating its power. Continuing development in analytical tools will allow the promise of NGS to be realized.

引用

页码：561 / 567

页数：7

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