How next-generation sequencing is transforming complex disease genetics

被引：47

作者：

Kilpinen, Helena ^{[1
,2
]}

Barrett, Jeffrey C. ^{[3
]}

机构：

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

[2] Swiss Inst Bioinformat, CH-1211 Geneva, Switzerland

[3] Wellcome Trust Sanger Inst, Dept Human Genet, Hinxton CB10 1HH, England

来源：

TRENDS IN GENETICS | 2013年 / 29卷 / 01期

基金：

英国惠康基金;

关键词：

next-generation sequencing; complex disease; GWAS; functional genomics; GENOME-WIDE ASSOCIATION; COPY NUMBER VARIATION; DE-NOVO MUTATIONS; MULTIPLE COMMON; RARE VARIANTS; EXPRESSION; DNA; IMPUTATION; IDENTIFICATION; RESOLUTION;

D O I：

10.1016/j.tig.2012.10.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Progress in understanding the genetics of human disease is closely tied to technological developments in DNA sequencing. Recently, next-generation technology has transformed the scale of sequencing; compared to the methods used in the Human Genome Project, modern sequencers are 50 000-fold faster. Complex disease genetics presents an immediate opportunity to use this technology to move from approaches using only partial information (linkage and genome-wide association studies, GWAS) to complete analysis of the relationship between genomic variation and phenotype. We first describe sequence-based improvements to existing study designs, followed by prioritization of both samples and genomic regions to be sequenced, and then address the ultimate goal of analyzing thousands of whole-genome sequences. Finally, we discuss how the same technology will also fundamentally change the way we understand the biological mechanisms underlying disease associations discovered through sequencing.

引用

页码：23 / 30

页数：8

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