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High-density single-nucleotide polymorphism maps of the human genome.

机译：人类基因组的高密度单核苷酸多态性图。

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摘要

Here we report a large, extensively characterized set of single-nucleotide polymorphisms (SNPs) covering the human genome. We determined the allele frequencies of 55,018 SNPs in African Americans, Asians (Japanese-Chinese), and European Americans as part of The SNP Consortium's Allele Frequency Project. A subset of 8333 SNPs was also characterized in Koreans. Because these SNPs were ascertained in the same way, the data set is particularly useful for modeling. Our results document that much genetic variation is shared among populations. For autosomes, some 44% of these SNPs have a minor allele frequency > or =10% in each population, and the average allele frequency differences between populations with different continental origins are less than 19%. However, the several percentage point allele frequency differences among the closely related Korean, Japanese, and Chinese populations suggest caution in using mixtures of well-established populations for case-control genetic studies of complex traits. We estimate that approximately 7% of these SNPs are private SNPs with minor allele frequencies <1%. A useful set of characterized SNPs with large allele frequency differences between populations (>60%) can be used for admixture studies. High-density maps of high-quality, characterized SNPs produced by this project are freely available.
机译：在这里，我们报告了涵盖人类基因组的大型，特征广泛的单核苷酸多态性（SNP）集。作为SNP联盟等位基因频率项目的一部分，我们确定了非洲裔美国人，亚洲人（日裔）和欧洲裔美国人中55,018个SNP的等位基因频率。韩国人还鉴定了8333个SNP的子集。由于这些SNP的确定方法相同，因此数据集对于建模特别有用。我们的结果表明，许多遗传变异在人群之间共享。对于常染色体，每个人群中约有44％的这些SNP的次要等位基因频率>或= 10％，具有不同大陆起源的人群之间的平均等位基因频率差异小于19％。但是，在紧密相关的韩国，日本和中国人群中，几个百分点的等位基因频率差异表明，在将成熟人群的混合物用于复杂性状的病例对照遗传研究时，应谨慎行事。我们估计这些SNP中大约7％是私人SNP，次要等位基因频率<1％。一组有用的在群体之间具有大等位基因频率差异（> 60％）的SNP可用于混合物研究。可免费获得此项目生产的高质量，特征化SNP的高密度图。

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