General Background
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:

     Pilot 1 sequenced lightly 179 samples from the HapMap CEU, YRI, CHB, and JPT populations.

     Pilot 2 sequenced deeply two trios:

• CEU NA12878 (daughter) and mother NA12892 and father NA12891.
• YRI NA19240 (daughter) and mother NA19238 and father NA19239.

     Pilot 3 sequenced deeply in the exons of 906 genes, in 697 samples from the CEU, TSI, YRI, LWK, CHB, JPT, and CHD HapMap 3 populations.

For the full-scale project, samples from about 25 populations will be studied. These 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). The CEPH samples are available from the NIGMS repository at Coriell; samples from all the other populations are or will be available from the NHGRI repository at Coriell (see 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 data for the 1000 Genomes Project are freely available to the public through the 1000 Genomes Project website and dbSNP.

The biomaterials currently available are shown in the table below.

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.

Populations in the 1000 Genomes Project: