A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data
作者： Carrie C Buchanan , Eric S Torstenson , William S Bush , Marylyn D Ritchie
DOI: 10.1136/AMIAJNL-2011-000652
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摘要: Background: Since publication of the human genome in 2003, geneticists have been interested risk variant associations to resolve etiology traits and complex diseases. The International HapMap Consortium undertook an effort catalog all common variation across (variants with a minor allele frequency (MAF) at least 5% one or more ethnic groups). along advances genotyping technology led genome-wide association studies which identified variants associated many In 2008 1000 Genomes Project aimed sequence 2500 individuals identify rare 99% MAF <1%. Methods: To determine whether includes HapMap, we examined overlap between single nucleotide polymorphisms (SNPs) genotyped two resources using merged phase II/III data low coverage pilot from Genomes. Results: Comparison sets showed that approximately 72% SNPs were also found data. After filtering out <5% (separately for each population), data. Conclusions: Not cataloged are Genomes. This could affect decisions about resource use SNP queries, validation, imputation. Both databases useful genetics, but it is important understand assumptions made strategies employed by these projects.
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