Sequencing studies in human genetics: design and interpretation

被引：186

作者：

Goldstein, David B. ^{[1
]}

Allen, Andrew ^{[1
,2
]}

Keebler, Jonathan ^{[1
]}

Margulies, Elliott H. ^{[3
]}

Petrou, Steven ^{[4
,5
]}

Petrovski, Slave ^{[1
,6
,7
]}

Sunyaev, Shamil ^{[8
]}

机构：

[1] Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

[2] Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Durham, NC 27710 USA

[3] Illumina Cambridge, Saffron Walden CB10 1XL, Essex, England

[4] Univ Melbourne, Melbourne Brain Ctr, Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3010, Australia

[5] Univ Melbourne, Ctr Neural Engn, Parkville, Vic 3010, Australia

[6] Univ Melbourne, Austin Hosp, Austin Hlth, Dept Med, Heidelberg, Vic 3084, Australia

[7] Univ Melbourne, Austin Hosp, Royal Melbourne Hosp, Dept Med, Heidelberg, Vic 3084, Australia

[8] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Med,Div Genet, Boston, MA 02115 USA

来源：

NATURE REVIEWS GENETICS | 2013年 / 14卷 / 07期

关键词：

DE-NOVO MUTATIONS; GENOME-WIDE ASSOCIATION; RARE VARIANTS; COPY-NUMBER; PROTEIN FUNCTION; COMMON DISEASES; RISK; FRAMEWORK; ALIGNMENT; GENOTYPE;

D O I：

10.1038/nrg3455

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Next-generation sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals to more common complex diseases. There are, however, growing concerns that the complexity and magnitude of complete sequence data could lead to an explosion of weakly justified claims of association between genetic variants and disease. Here, we provide an overview of the basic workflow in next-generation sequencing studies and emphasize, where possible, measures and considerations that facilitate accurate inferences from human sequencing studies.

引用

页码：460 / 470

页数：11

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