Haplotype phasing: existing methods and new developments

被引：418

作者：

Browning, Sharon R. ^{[1
]}

Browning, Brian L. ^{[2
]}

机构：

[1] Univ Washington, Dept Biostat, Seattle, WA 98195 USA

[2] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

来源：

NATURE REVIEWS GENETICS | 2011年 / 12卷 / 10期

基金：

英国惠康基金; 美国国家卫生研究院;

关键词：

LINKAGE DISEQUILIBRIUM; GENOTYPE-IMPUTATION; MAXIMUM-LIKELIHOOD; ACCURATE ALGORITHM; POSITIVE SELECTION; INFERENCE; GENOME; ASSOCIATION; SEQUENCE; LOCUS;

D O I：

10.1038/nrg3054

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Determination of haplotype phase is becoming increasingly important as we enter the era of large-scale sequencing because many of its applications, such as imputing low-frequency variants and characterizing the relationship between genetic variation and disease susceptibility, are particularly relevant to sequence data. Haplotype phase can be generated through laboratory-based experimental methods, or it can be estimated using computational approaches. We assess the haplotype phasing methods that are available, focusing in particular on statistical methods, and we discuss the practical aspects of their application. We also describe recent developments that may transform this field, particularly the use of identity-by-descent for computational phasing.

引用

页码：703 / 714

页数：12

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