The role of replicates for error mitigation in next-generation sequencing

被引：218

作者：

Robasky, Kimberly ^{[1
,2
,3
]}

Lewis, Nathan E. ^{[2
,3
,4
]}

Church, George M. ^{[2
,3
]}

机构：

[1] Boston Univ, Program Bioinformat, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[3] Harvard Univ, Wyss Inst Biol Inspired Engn, Boston, MA 02115 USA

[4] Brigham Young Univ, Dept Biol, Provo, UT 84602 USA

来源：

NATURE REVIEWS GENETICS | 2014年 / 15卷 / 01期

基金：

美国国家卫生研究院;

关键词：

PCR AMPLIFICATION; SYSTEMS BIOLOGY; GENOME; DNA; CANCER; ACCURATE; MUTATIONS; IDENTIFICATION; CHALLENGES; FRAMEWORK;

D O I：

10.1038/nrg3655

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Advances in next-generation sequencing (NGS) technologies have rapidly improved sequencing fidelity and substantially decreased sequencing error rates. However, given that there are billions of nucleotides in a human genome, even low experimental error rates yield many errors in variant calls. Erroneous variants can mimic true somatic and rare variants, thus requiring costly confirmatory experiments to minimize the number of false positives. Here, we discuss sources of experimental errors in NGS and how replicates can be used to abate such errors.

引用

页码：56 / 62

页数：7

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