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| title | chunk | source | category | tags | date_saved | instance |
|---|---|---|---|---|---|---|
| 1000 Genomes Project | 2/2 | https://en.wikipedia.org/wiki/1000_Genomes_Project | reference | science, encyclopedia | 2026-05-05T14:00:43.421720+00:00 | kb-cron |
Based on the overall goals for the project, the samples will be chosen to provide power in populations where association studies for common diseases are being carried out. Furthermore, the samples do not need to have medical or phenotype information since the proposed catalogue will be a basic resource on human variation. For the pilot studies human genome samples from the HapMap collection will be sequenced. It will be useful to focus on samples that have additional data available (such as ENCODE sequence, genome-wide genotypes, fosmid-end sequence, structural variation assays, and gene expression) to be able to compare the results with those from other projects. Complying with extensive ethical procedures, the 1000 Genomes Project will then use samples from volunteer donors. The following populations will be included in the study: Yoruba in Ibadan (YRI), Nigeria; Japanese in Tokyo (JPT); Chinese in Beijing (CHB); Utah residents with ancestry from northern and western Europe (CEU); Luhya in Webuye, Kenya (LWK); Maasai in Kinyawa, Kenya (MKK); Toscani in Italy (TSI); Peruvians in Lima, Peru (PEL); Gujarati Indians in Houston (GIH); Chinese in metropolitan Denver (CHD); people of Mexican ancestry in Los Angeles (MXL); and people of African ancestry in the southwestern United States (ASW).
- Population that was collected in diaspora
=== Community meeting === Data generated by the 1000 Genomes Project is widely used by the genetics community, making the first 1000 Genomes Project one of the most cited papers in biology. To support this user community, the project held a community analysis meeting in July 2012 that included talks highlighting key project discoveries, their impact on population genetics and human disease studies, and summaries of other large-scale sequencing studies.
== Project findings ==
=== Pilot phase === The pilot phase consisted of three projects:
low-coverage whole-genome sequencing of 179 individuals from 4 populations high-coverage sequencing of 2 trios (mother-father-child) exon-targeted sequencing of 697 individuals from 7 populations It was found that on average, each person carries around 250–300 loss-of-function variants in annotated genes and 50-100 variants previously implicated in inherited disorders. Based on the two trios, it is estimated that the rate of de novo germline mutation is approximately 10−8 per base per generation.
== See also ==
Human Genome Project HapMap Project Personal genomics Population groups in biomedicine 1000 Plant Genomes Project List of biological databases
== References ==
== External links == 1000 Genomes - A Deep Catalog of Human Genetic Variation - official web page International HapMap Project Archived 2014-04-16 at the Wayback Machine - official web page Human Genome Project Information Archived 2008-03-15 at the Wayback Machine