A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data.

ABSTRACT:

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 advances in genotyping technology led to genome-wide association studies which have identified common variants associated with many traits and diseases. In 2008 the 1000 Genomes Project aimed to sequence 2500 individuals and identify rare variants and 99% of variants with a MAF of <1%.

Methods

To determine whether the 1000 Genomes Project includes all the variants in HapMap, we examined the

SUBMITTER: Buchanan CC 

PROVIDER: S-EPMC3277631 | biostudies-literature | 2012 Mar-Apr

REPOSITORIES: biostudies-literature