Department of Computer Science, Columbia University, 500 West 120th, New York City, NY 10027, USA.
Bioinformatics. 2013 Jul 1;29(13):i180-8. doi: 10.1093/bioinformatics/btt239.
Pairs of individuals from a study cohort will often share long-range haplotypes identical-by-descent. Such haplotypes are transmitted from common ancestors that lived tens to hundreds of generations in the past, and they can now be efficiently detected in high-resolution genomic datasets, providing a novel source of information in several domains of genetic analysis. Recently, haplotype sharing distributions were studied in the context of demographic inference, and they were used to reconstruct recent demographic events in several populations. We here extend the framework to handle demographic models that contain multiple demes interacting through migration. We extensively test our formulation in several demographic scenarios, compare our approach with methods based on ancestry deconvolution and use this method to analyze Masai samples from the HapMap 3 dataset.
DoRIS, a Java implementation of the proposed method, and its source code are freely available at http://www.cs.columbia.edu/~pier/doris.
来自研究队列的个体对通常共享来自数十至数百代以前的共同祖先的长程同系单体型。这些单体型现在可以在高分辨率基因组数据集高效地检测到,为遗传分析的几个领域提供了新的信息来源。最近,单体型共享分布在人口推断的背景下进行了研究,并被用于重建几个群体的近期人口事件。在这里,我们扩展了该框架以处理包含通过迁移相互作用的多个群体的人口模型。我们在几个人口学场景中对我们的公式进行了广泛的测试,将我们的方法与基于祖先分解的方法进行比较,并使用这种方法来分析 HapMap 3 数据集的马赛样本。
DoRIS,所提出方法的 Java 实现及其源代码可在 http://www.cs.columbia.edu/~pier/doris 上免费获取。