Relatedness Mapping and Tracts of Relatedness for Genome-Wide Data in the Presence of Linkage Disequilibrium

Relatedness Mapping and Tracts of Relatedness for Genome-Wide Data in the Presence of Linkage Disequilibrium
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DOI:
10.1002/gepi.20378
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发表时间:
2009-04-01
影响因子:
2.1
通讯作者:
Nielsen, Rasmus
Nielsen, Rasmus
中科院分区:
医学4区
文献类型:
--
作者:
Albrechtsen, Anders;Korneliussen, Thorfinn Sand;Nielsen, Rasmus

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相关性的估计有几个应用,如亲属的鉴定或通过血统同一性(IBD)映射来鉴定疾病相关基因。在这里,我们提出了一种新的方法来确定IBD道之间的个人全基因组单核苷酸多态性数据。我们使用一个连续时间马尔可夫模型,其中隐藏状态是在给定位置处的个体对之间共享IBD的等位基因的数量。与以前的方法相比,我们的方法准确地占连锁不平衡使用成对单倍型概率。该方法提供了沿基因组的局部相关性的图沿着。我们说明了潜在的映射疾病基因的方法在一个真实的数据集,并表明,该方法有可能映射致病性疾病的突变只使用少数受影响的个人。与标准关联作图法相比,新的IBD作图法在自然群体中的作图能力有了相当大的提高。Genet.流行病学33:266-274,2009. (C)2008威利利斯公司
Estimates of relatedness have several applications such as the identification of relatives or in identifying disease related genes through identity by descent (IBD) mapping. Here we present a new method for identifying IBD tracts among individuals from genome-wide single nucleotide polymorphisms data. We use a continuous time Markov model where the hidden states are the number of alleles shared IBD between pairs of individuals at a given position. In contrast to previous methods, our method accurately accounts for linkage disequilibrium using pairwise haplotype probabilities. The method provides a map of the local relatedness along the genome. We illustrate the potential of the method for mapping disease genes on a real data set, and show that the method has the potential to map causative disease mutations using only a handful of affected individuals. The new IBD mapping method provides considerable improvement in mapping power in natural populations compared to standard association mapping methods. Genet. Epidemiol. 33:266-274, 2009. (C) 2008 Wiley-Liss, Inc.