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Methods for Inferring Block-Wise Ancestral History from Haploid Sequences The Haplotype Coloring Problem

机译:从单倍体序列推断块明智的祖先历史的方法,单倍型着色问题

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Recent evidence for a "blocky" haplotype structure to the human genome and for its importance to disease inference studied has created a pressing need for tools that identify patterns of past recombination in sequences of samples of human genes and gene regions. We present two new approaches to the reconstruction of likely recombination patterns from a set of haploid sequences which each combine combinatorial optimization techniques with statistically motivated recombination models. The first breaks the problem into two discrete steps: finding recombination sites then coloring sequences to signify the likely ancestry of each segment. The second poses the problem as optimizing a single probability function for parsing a sequence in terms of ancestral haplotypes. We explain the motivation for each method, present algorithms, show their correctness, and analyze their complexity. We illustrate and analyze the methods with results on real, contrived, and simulated datasets.
机译:最近对人类基因组进行“块状”单倍型结构的证据,以及其对疾病推断的重要性研究已经为识别人类基因样本和基因区域序列中过去重组模式的工具产生了压制需求。我们向两种单倍体序列中的两种具有重组模式的重建的两种新方法具有统计上促进的重组模型的组合的单倍体序列。第一个将问题分为两个离散步骤:找到重组位点,然后着色序列,以表示每个段的可能血统。第二个使问题摆在优化以在祖先单倍型方面解析序列的单个概率函数。我们解释了每种方法的动机,目前的算法,显示它们的正确性,并分析它们的复杂性。我们说明并分析了实际,编辑和模拟数据集的结果。

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