1000 Genomes Project
Graphic by NCBI
2008 Oct 31
The overall goal of the 1000 Genomes Project is the generation of a nearly complete catalog of common human genetic variants (defined as having a frequency of 1% or higher). This catalog will include Single Nucleotide Polymorphisms (SNPs), copy number variants (CNVs), and short insertion and deletion polymorphisms (Indels) and will be generated by high-quality sequence data obtained from a geographically diverse collection of individuals. These data will be critical to genetic association studies of complex diseases such as cardiovascular disease, various cancers and neurological diseases such a schizophrenia and autism. The project is international in scope with researchers and funding contributions from the US, UK, China and Germany.
The 1000 Genomes Project will also offer insight into the performance of so-called “next generation sequencing” platforms. These technologies offer both substantially increased throughput and reduced cost when compared to traditional Sanger dideoxynucleotide capillary platforms, but are still new enough that questions of required sequencing depth of coverage and error models have yet to be conclusively defined. The HGSC is using both the Applied Biosystems (AB) SOLiD and Roche/454 platforms and is making significant contributions to each sector of the Project pilot. The three pilot project sectors are: Pilot 1 - low-depth of coverage sequencing of whole genomes for 180 individuals; Pilot 2 - deep sequencing of whole genomes for two parent-offspring trios; Pilot 3 - targeted sequencing of coding sequences for 1000 genes in ~1000 individuals.
Selected PubMed Citations
Albert, TJ, Molla, MN, Muzny, DM, Nazareth, L, Wheeler, D, Song, X, Richmond, TA, Middle, CM, Rodesch, MJ et al. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 2007 Nov; 4(11):903-5. [PubMed]