منابع مشابه
A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data
BACKGROUND Since publication of the human genome in 2003, geneticists have been interested in risk variant associations to resolve the etiology of traits and complex diseases. The International HapMap Consortium undertook an effort to catalog all common variation across the genome (variants with a minor allele frequency (MAF) of at least 5% in one or more ethnic groups). HapMap along with advan...
متن کاملApplications of the 1000 Genomes Project resources
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 ...
متن کاملThe analysis of APOL1 genetic variation and haplotype diversity provided by 1000 Genomes project
BACKGROUND The APOL1 gene variants has been shown to be associated with an increased risk of multiple kinds of diseases, particularly in African Americans, but not in Caucasians and Asians. In this study, we explored the single nucleotide polymorphism (SNP) and haplotype diversity of APOL1 gene in different races provided by 1000 Genomes project. METHODS Variants of APOL1 gene in 1000 Genome ...
متن کاملHLA Diversity in the 1000 Genomes Dataset
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation by sequencing at a level that should allow the genome-wide detection of most variants with frequencies as low as 1%. However, in the major histocompatibility complex (MHC), only the top 10 most frequent haplotypes are in the 1% frequency range whereas thousands of haplotypes are present at lower ...
متن کاملA pharmacogene database enhanced by the 1000 Genomes Project.
Human genetic variation is likely to be responsible for a substantial fraction of the variability in complex traits including drug response. Single nucleotide polymorphisms have been implicated in drug response using genome-wide association studies as well as candidate-gene approaches. A more comprehensive catalogue of human genetic variation should complement the current large-scale genotypic ...
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ژورنال
عنوان ژورنال: Circulation Research
سال: 2011
ISSN: 0009-7330,1524-4571
DOI: 10.1161/res.0b013e31821470fe