由“1000个基因组项目”撰写的这篇论文描述rn了来自14个人群的1,092个个体的基因组，为rn来自不同人群的个体中常见和低频变异体的rn分析提供了一个资源。综合分析显示了不同人rn群中罕见和常见的变异体特征。罕见变异体rn的频率在不同生物通道上是不同的，对每个rn个体，可以确定位于保守点上的数百个罕见rn的、非编码变异体(如扰乱转录因子主题的那rn些变化)。%By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
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机译：由“1000个基因组项目”撰写的这篇论文描述rn了来自14个人群的1,092个个体的基因组，为rn来自不同人群的个体中常见和低频变异体的rn分析提供了一个资源。综合分析显示了不同人rn群中罕见和常见的变异体特征。罕见变异体rn的频率在不同生物通道上是不同的，对每个rn个体，可以确定位于保守点上的数百个罕见rn的、非编码变异体(如扰乱转录因子主题的那rn些变化)。%By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
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