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Haplotypes histories as pathways of recombinations

机译:单倍型历史作为重组途径

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Motivation: The diversity of a haplotype, represented as a string of polymorphic sites along a DNA sequence, increases exponentially with the number of sites if recombinations are taking place. Reconstructing the history of recombinations compared with that of the polymorphic sites is thus extremely difficult. However, in the human genome, because of the relatively simple pattern of haplotype diversity dominated by a few ancestral haplotypes, the complexity of the recombinational network can be reduced, thus making its reconstruction feasible. We focus on the problem of inferring the recombination pathways starting with putative ancestral haplotypes and leading to new rare recombinant haplotypes. Results: We describe classes of recombinations that represent the whole set of minimal recombination pathways leading to a new haplotype. We present an O(n2) algorithm that outputs such representative recombination pathways. We apply it to haplotypes of the 8 kb dystrophin gene segment dys44.
机译:动机:如果发生重组,则单倍型的多样性(代表沿着DNA序列的一串多态性位点)会随着位点的数量呈指数增加。因此,与多态性位点相比,重组历史非常困难。然而,在人类基因组中,由于由少数祖先单倍型主导的相对简单的单倍型多样性模式,可以降低重组网络的复杂性,从而使其重组可行。我们着重于推断推测的祖先单倍型并导致新的罕见重组单倍型的重组途径的问题。结果:我们描述的重组类别代表了导致新单倍型的最小重组途径的全集。我们提出一种O(n2)算法,输出这种代表性的重组途径。我们将其应用于8 kb dystrophin基因段dys44的单倍型。

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