1000 Genomes Project

The 1000 Genomes Project (abbreviated as 1KGP), launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive. In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. In 2012, the sequencing of 1092 genomes was announced in a Nature publication. In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research. Many rare variations, restricted to closely related groups, were identified, and eight structural-variation classes were analyzed.

The project unites multidisciplinary research teams from institutes around the world, including China, Italy, Japan, Kenya, Nigeria, Peru, the United Kingdom, and the United States. Each will contribute to the enormous sequence dataset and to a refined human genome map, which will be freely accessible through public databases to the scientific community and the general public alike.

By providing an overview of all human genetic variation, the consortium will generate a valuable tool for all fields of biological science, especially in the disciplines of genetics, medicine, pharmacology, biochemistry, and bioinformatics.

Since the completion of the Human Genome Project advances in human population genetics and comparative genomics have made it possible to gain increasing insight into the nature of genetic diversity. However, we are just beginning to understand how processes like the random sampling of gametes, structural variations (insertions/deletions (indels), copy number variations (CNV), retroelements), single-nucleotide polymorphisms (SNPs), and natural selection have shaped the level and pattern of variation within species and also between species.

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