Applications of the 1000 Genomes Project resources.

BRIEFINGS IN FUNCTIONAL GENOMICS(2017)

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摘要
The 1000 Genomes Project created a valuable, worldwide reference for human genetic variation. Common uses of the 1000 Genomes dataset include genotype imputation supporting Genome-wide Association Studies, mapping expression Quantitative Trait Loci, filtering non-pathogenic variants from exome, whole genome and cancer genome sequencing projects, and genetic analysis of population structure and molecular evolution. In this article, we will highlight some of the multiple ways that the 1000 Genomes data can be and has been utilized for genetic studies.
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关键词
variation,reference,imputation,GWAS,eQTL,natural selection
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