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IBD-Groupon: an efficient method for detecting group-wise identity-by-descent regions simultaneously in multiple individuals based on pairwise IBD relationships

机译:IBD-Groupon:一种有效的方法用于基于成对IBD关系在多个个体中同时检测按血统的逐族身份

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摘要

>Motivation: Detecting IBD tracts is an important problem in genetics. Most of the existing methods focus on detecting pairwise IBD tracts, which have relatively low power to detect short IBD tracts. Methods to detect IBD tracts among multiple individuals simultaneously, or group-wise IBD tracts, have better performance for short IBD tracts detection. Group-wise IBD tracts can be applied to a wide range of applications, such as disease mapping, pedigree reconstruction and so forth. The existing group-wise IBD tract detection method is computationally inefficient and is only able to handle small datasets, such as 20, 30 individuals with hundreds of SNPs. It also requires a previous specification of the number of IBD groups, or partitions of the individuals where all the individuals in the same partition are IBD with each other, which may not be realistic in many cases. The method can only handle a small number of IBD groups, such as two or three, because of scalability issues. What is more, it does not take LD (linkage disequilibrium) into consideration.>Results: In this work, we developed an efficient method IBD-Groupon, which detects group-wise IBD tracts based on pairwise IBD relationships, and it is able to address all the drawbacks aforementioned. To our knowledge, our method is the first practical group-wise IBD tracts detection method that is scalable to very large datasets, for example, hundreds of individuals with thousands of SNPs, and in the meanwhile, it is powerful to detect short IBD tracts. Our method does not need to specify the number of IBD groups, which will be detected automatically. And our method takes LD into consideration, as it is based on pairwise IBD tracts where LD can be easily incorporated.>Contact:
机译:>动机:检测IBD片段是遗传学中的重要问题。现有的大多数方法集中于检测成对的IBD道,这对检测短IBD道的能力相对较低。同时检测多个个体中的IBD道或成组IBD道的方法对于短IBD道检测具有更好的性能。逐组IBD片段可以应用于广泛的应用程序,例如疾病图谱,谱系重建等。现有的逐组IBD道检测方法在计算上效率低下,并且只能处理小型数据集,例如20个,30个具有数百个SNP的个体。它还需要对IBD组或单个分区的数量进行预先说明,其中同一分区中的所有个人都是IBD,这在许多情况下可能不切实际。由于可伸缩性问题,该方法只能处理少量的IBD组,例如两个或三个。而且,它没有考虑LD(链接不平衡)。>结果::在这项工作中,我们开发了一种有效的方法IBD-Groupon,该方法可以基于成对IBD关系检测成组IBD区域。 ,并且能够解决上述所有缺点。据我们所知,我们的方法是第一种实用的逐组IBD道检测方法,可扩展到非常大的数据集,例如数百个具有数千个SNP的个体,同时,它可以检测短的IBD道。我们的方法无需指定IBD组的数量,该数量将自动检测。我们的方法考虑了LD,因为它基于成对的IBD区域,可以轻松合并LD。>联系方式:

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