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首页> 外文期刊>Genetic epidemiology. >Relatedness mapping and tracts of relatedness for genome-wide data in the presence of linkage disequilibrium.
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Relatedness mapping and tracts of relatedness for genome-wide data in the presence of linkage disequilibrium.

机译:在连锁不平衡的情况下,对全基因组数据的相关性作图和相关性。

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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.
机译:相关性的估计有多种应用,例如鉴定亲戚或通过血统鉴定(IBD)作图鉴定疾病相关基因。在这里,我们提出了一种新的方法,可以从全基因组单核苷酸多态性数据中识别个体中的IBD片段。我们使用连续时间马尔可夫模型,其中隐藏状态是在给定位置的成对个体之间共享的IBD等位基因数量。与以前的方法相比,我们的方法使用成对的单倍型概率来准确说明连锁不平衡。该方法提供了沿基因组的局部相关性图。我们说明了在真实数据集上绘制疾病基因的方法的潜力,并表明该方法仅使用少数受影响的个体即可绘制致病性疾病突变的潜力。与标准关联制图方法相比,新的IBD制图方法在自然种群中的制图能力大大提高。

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