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 studied 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 about 180 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 1000 genes, in 697 samples from the CEU, TSI, YRI, LWK, CHB, JPT, and CHD populations.

For the full-scale project, samples from about 27 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 samples (Luhya, Toscani, African Ancestry, and Mexican Ancestry). 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 the 1000 Genomes data are freely available to the public, through the Project website and through dbSNP.

The biomaterials currently available are shown in the table below.

Populations in the 1000 Genome Project: