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一幅涵盖人类基因组重组率和热点的精细图谱。

A fine-scale map of recombination rates and hotspots across the human genome.

作者信息

Myers Simon, Bottolo Leonardo, Freeman Colin, McVean Gil, Donnelly Peter

机构信息

Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK.

出版信息

Science. 2005 Oct 14;310(5746):321-4. doi: 10.1126/science.1117196.

Abstract

Genetic maps, which document the way in which recombination rates vary over a genome, are an essential tool for many genetic analyses. We present a high-resolution genetic map of the human genome, based on statistical analyses of genetic variation data, and identify more than 25,000 recombination hotspots, together with motifs and sequence contexts that play a role in hotspot activity. Differences between the behavior of recombination rates over large (megabase) and small (kilobase) scales lead us to suggest a two-stage model for recombination in which hotspots are stochastic features, within a framework in which large-scale rates are constrained.

摘要

遗传图谱记录了重组率在基因组中的变化方式,是许多遗传分析的重要工具。我们基于对遗传变异数据的统计分析,呈现了一张人类基因组的高分辨率遗传图谱,并识别出超过25000个重组热点,以及在热点活性中起作用的基序和序列背景。重组率在大尺度(兆碱基)和小尺度(千碱基)上行为的差异,促使我们提出一种重组的两阶段模型,其中热点是随机特征,处于大尺度重组率受到限制的框架内。

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