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In 2008, the international 1000 Genomes Consortium launched the 1000 Genomes Project to develop a resource on human genetic variation that contains information on most of the genetic variants with frequencies of 1% or higher in the studies set of samples. This resource will support genome-wide association studies and other studies relating genetic variation to health and disease.
The 1000 Genomes Project started with three pilot projects, to provide data that would be used to help design the full-scale project:
For the full-scale project, samples from 26 populations were studied in three phases. These studies not only include several new populations, but also include the populations in the HapMap (Yoruba, CEPH, Han Chinese, and Japanese), and several of the populations from the extended set of HapMap (HapMap 3) samples (Luhya, Toscani, African Ancestry, Mexican Ancestry, and Gujarati).
1000 Genomes Project Sample Data
The NHGRI Repository at Coriell does not house the data generated from the 1000 Genomes Project. All data for the 1000 Genomes Project are freely available to the public through the 1000 Genomes Project website and dbSNP.
Populations in the 1000 Genomes Project
All 1000 Genomes Project population samples are available from the NHGRI Repository at Coriell, except for the CEPH [CEU] population samples, which are available from the NIGMS Repository at Coriell (see table below). The samples have no identifying or phenotype information available. Donors gave broad consent for use of the samples, including for genotyping, sequencing, and cellular phenotype studies.
All cell culture and DNA samples can be purchased individually. The NHGRI Repository also offers standard DNA panels for each population. Each standard panel provides all the samples from unrelated individuals that were used for the 1000 Genomes and HapMap Project populations. Except for the YRI trio included in the Pilot 2 project (with child sample NA19240), child DNA samples are not included in the panels but are available for order as individual samples. Each sample in the panel has 2 micrograms of DNA. By providing a standard panel for each population and a smaller amount of DNA, the cost is lowered so that each panel costs $1000 or less, as compared to $5500 per panel when the samples are ordered individually (with 50 micrograms of DNA each).
*Note that for the HapMap populations listed below, sample overlap exists between the panels listed below and other plates or panels offered as part of the International HapMap collection.
* CEPH Collection [CEU] samples are available from the NIGMS Human Genetic Cell Repository at Coriell.