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PIGS: Improved Estimates of Identity-by-Descent Probabilities by Probabilistic IBD Graph Sampling

机译:PIGS:通过概率IBD图采样改进的按血统身份的估计

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Identifying segments of the genome that are identical-by-descent (IBD) between individuals is a fundamental concept in genetics. IBD data are used in numerous applications including demographic inference, heritability estimation, and disease loci mapping. Therefore, the identification of IBD segments from genome-wide genotyping studies, and more recently sequencing studies, has important implications for studies of complex human traits. Current methods for detecting IBD fall into two categories: multiway or pair-wise. Multiway methods detect IBD over multiple haplotypes simultaneously and leverage the clique structure of true IBD. Although powerful, these approaches are generally computationally expensive since the number of potential IBD relationships at a locus is O(2~(h(h-1)/2)), where h is the number of haplotypes. As a result, many state-of-the-art methods estimate the probability of IBD between pairs of haplotypes independently. The result is a much more efficient method but at the expense of loss of power when detecting smaller IBD segments (<1 centimorgans).
机译:识别个体之间血统相同(IBD)的基因组片段是遗传学的基本概念。 IBD数据用于许多应用程序,包括人口统计推断,遗传力估计和疾病位点作图。因此,从全基因组基因型研究和最近的测序研究中鉴定IBD区段对复杂的人类性状研究具有重要意义。当前用于检测IBD的方法分为两类:多路或成对。多路方法可同时检测多种单倍型的IBD,并利用真实IBD的分子结构。尽管功能强大,但是这些方法通常在计算上是昂贵的,因为在一个位点的潜在IBD关系的数量是O(2〜(h(h-1)/ 2)),其中h是单倍型的数量。结果,许多最先进的方法独立地估计了单倍型对之间IBD的概率。结果是一种效率更高的方法,但是以检测较小的IBD段(<1厘摩)时的功率损耗为代价。

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