Latest Announcements

Monday September 15, 2014

Our final release of the Phase 3 variant set is now available on the FTP site

This update represents version 5 of our release. The issues which have been resolved since our initial release are covered in the Known Issues README

This release includes super population allele frequencies in the main release vcfs and functional annotation from the Ensembl Variant Effect Predictor along side many other datasets in the supporting directory. The complete list of data is covered in the Supporting Directory README

Please send any questions about this data set to info@1000genomes.org



Recent project announcements

Wednesday September 24, 2014

The 1000 Genomes project is holding a tutorial during ASHG 2014.

The 1000 Genomes Project has released the variants, genotypes, and integrated haplotypes for the complete set of 2504 samples from 26 populations.  This tutorial describes the data sets, how to access them, and how to use them.

The tutorial will be on Sunday 19th between 8 and 9:30pm in the Convention Centre, Room 24ABC in the Upper Level.

The program is listed on our tutorial web page.

No registration is needed.

Please send any questions about the tutorial to info@1000genomes.org



Wednesday June 25, 2014

We have created a new tool to calculate population specific allele frequencies. The Allele Frequency Calculator will calculate and provide a table of population specific allele frequencies from a vcf file and sample panel file.

The tool is documented on this website

The tool currently has two run modes, the first gives you the allele frequencies for a particular population. The second is run by selecting the ALL population and this gives you the allele frequency for all the populations as well as the global allele frequency.

Please do note in genomic regions which are very variant dense or very large regions the tool will run more slowly.

Please send any questions about the tool to info@1000genomes.org



Tuesday June 24, 2014

The initial call set from the 1000 Genomes Project Phase 3 analysis is now available on our ftp site in the directory release/20130502/.

These release contains more than 79 million variant sites and includes not just biallelic snps but also indels, deletions, complex short substitutions and other structural variant classes. It is based on data from 2535 individuals from 26 different populations around the world.

More details about the variant set can be found in the README

Please send any questions about this data set to info@1000genomes.org



Project Overview

The 1000 Genomes Project is an international collaboration to produce an extensive public catalog of human genetic variation, including SNPs and structural variants, and their haplotype contexts. This resource will support genome-wide association studies and other medical research studies.

The genomes of about 2500 unidentified people from about 25 populations around the world will be sequenced using next-generation sequencing technologies. The results of the study will be freely and publicly accessible to researchers worldwide.

Further information about the project is available in the About tab. Information about downloading, browsing or using the 1000 Genomes data is available in the Data tab.