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Identifying and Classifying Shared Selective Sweeps from Multilocus Data

机译:从多层数据识别和分类共享选择性扫描

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摘要

Positive selection causes beneficial alleles to rise to high frequency, resulting in a selective sweep of the diversity surrounding the selected sites. Accordingly, the signature of a selective sweep in an ancestral population may still remain in its descendants. Identifying signatures of selection in the ancestor that are shared among its descendants is important to contextualize the timing of a sweep, but few methods exist for this purpose. We introduce the statistic SS-H12, which can identify genomic regions under shared positive selection across populations and is based on the theory of the expected haplotype homozygosity statistic H12, which detects recent hard and soft sweeps from the presence of high-frequency haplotypes. SS-H12 is distinct from comparable statistics because it requires a minimum of only two populations, and properly identifies and differentiates between independent convergent sweeps and true ancestral sweeps, with high power and robustness to a variety of demographic models. Furthermore, we can apply SS-H12 in conjunction with the ratio of statistics we term H2Tot and H1Tot to further classify identified shared sweeps as hard or soft. Finally, we identified both previously reported and novel shared sweep candidates from human whole-genome sequences. Previously reported candidates include the well-characterized ancestral sweeps at LCT and SLC24A5 in Indo-Europeans, as well as GPHN worldwide. Novel candidates include an ancestral sweep at RGS18 in sub-Saharan Africans involved in regulating the platelet response and implicated in sudden cardiac death, and a convergent sweep at C2CD5 between European and East Asian populations that may explain their different insulin responses.
机译:阳性选择导致有益等位基因上升到高频,导致选择性扫描所选地点周围的多样性。因此,在祖先人群中的选择性扫描的签名仍然可以留在其后代。在其后代共享的祖先中识别选择的签名对于上下文化扫描的时机是很重要的,但是为此目的存在很少的方法。我们介绍了统计SS-H12,可以在群体中识别基因组区域,并基于预期的单倍型纯合统计H12的理论,该H12检测到近期的高频单倍型存在的硬度和软扫描。 SS-H12与可比统计数据不同,因为它需要至少两个人群,并且正确地识别和区分独立收敛扫描和真正的祖先扫描,具有高功率和鲁棒性对各种人口统计学模型。此外,我们可以将SS-H12应用于H2tot和H1tot的统计比率,以进一步分类识别的共享扫描,如硬或软。最后,我们鉴定了先前报告的和新型共享扫描来自人类全基因组序列的候选者。以前报告的候选人包括在Indo-Europeass的LCT和SLC24A5的众所周知的祖先扫描,以及全球GPHN。新颖的候选人包括在撒哈拉非洲的RGS18中的祖先扫描,参与调节血小板响应并涉及突然的心脏死亡,以及欧洲和东亚人群的C2CD5的会聚扫描,可以解释它们的不同胰岛素反应。

著录项

  • 期刊名称 Genetics
  • 作者单位
  • 年(卷),期 2020(215),1
  • 年度 2020
  • 页码 143–171
  • 总页数 29
  • 原文格式 PDF
  • 正文语种
  • 中图分类 遗传学;
  • 关键词

    机译:预期单倍型纯合子;多点基因型;祖传扫描;会聚扫描;

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