Department of Biostatistics, University of Washington, Seattle, Washington 98195, USA.
Nat Rev Genet. 2011 Sep 16;12(10):703-14. doi: 10.1038/nrg3054.
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.
随着我们进入大规模测序时代，确定单倍型相位变得越来越重要，因为它的许多应用，如推断低频变体和描述遗传变异与疾病易感性之间的关系，与序列数据特别相关。单倍型相位可以通过基于实验室的实验方法生成，也可以使用计算方法来估计。我们评估了现有的单倍型相位方法，特别关注统计方法，并讨论了它们应用的实际方面。我们还描述了可能改变这一领域的最新发展，特别是使用依赖关系进行计算相位。
