The 1000 Genomes Project is a collaboration among research groups in the US, UK, and China and Germany to produce an extensive catalog of human genetic variation that will support future medical research studies. It will extend the data from the International HapMap Project, which created a resource that has been used to find more than 100 regions of the genome that are associated with common human diseases such as coronary artery disease and diabetes. The goal of the 1000 Genomes Project is to provide a resource of almost all variants, including SNPs and structural variants, and their haplotype contexts. This resource will allow genome-wide association studies to focus on almost all variants that exist in regions found to be associated with disease. The genomes of over 1000 unidentified individuals from around the world will be sequenced using next generation sequencing technologies. The results of the study will be publicly accessible to researchers worldwide.
Three pilot studies are in progress that will guide study design and methods to accomplish the scientific goals of the full-scale project. One pilot will provide deep sequencing in two mother-father-adult child trios, to understand how sequencing coverage relates to data quality, and to provide a "gold-standard" for the sequence. Another pilot will provide light sequencing of 180 samples, to examine how well data can be combined across samples. The third pilot study will evaluate detailed cataloging of protein-coding regions of the genome by sequencing 1000 gene regions in 1000 samples.
Adam Felsenfeld, Ph.D.
Last Updated: November 8, 2012