On Jan. 22, 2008, an international research consortium announced the 1000 Genomes Project, an ambitious effort that involved sequencing the genomes of at least a thousand people from around the world to create the most detailed and medically useful picture to date of human genetic variation.

The 1000 Genomes Project ran between 2008 and 2015, creating the largest public catalogue of human variation and genotype data. The project received major support from the Wellcome Trust Sanger Institute in Hinxton, England, the Beijing Genomics Institute, Shenzhen in China and the National Human Genome Research Institute in the U.S.

In 2014, the Genome Reference Consortium released an update of the human genome reference assembly, GRCh38. This update to the human reference assembly increased the quantity of alternative loci represented. GRCh38 contains 178 genomic regions with associated alternative loci (2% of chromosomal sequence (61.9 Mb)).

These are made up of 261 alternative loci (containing 3.6 Mb novel sequence relative to chromosomes). The GRC were also able to resolve more than 1000 issues from the previous version of the assembly, providing a better basis for alignment and subsequent analysis.

Along with high-coverage genomic sequence data from NYGC, the cell lines generated by the 1000 Genomes Project have been used by other researchers, who have generated further data sets. The GEUVADIS project, which generated RNA-Seq data on the 1000 Genomes samples of European ancestry and the YRI population is one example of this. Groups such as the Human Genome Structural Variation Consortium (HGSVC) have also generated a wide variety of data from the 1000 Genomes Project cell lines.