Latest Announcements
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
Recent project announcements
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
The 1000 Genomes FTP site is now available as an endpoint in the Globus Online service.
The endpoint name is ebi#1000genomes
Our FAQ has more details about how to access the data via Globus.
1000 Genomes Project and Beyond
24-26 June 2014
Churchill College, Cambridge, UK
This Wellcome Trust conference will focus on advances enabled by the 1000 Genomes Project, including the new directions in genetics and genomics that it has facilitated. It is the latest in the successful series of community meetings for the HapMap and 1000 Genomes Project, marking the end of the 1000 Genomes Project this summer.
Scientific sessions will include:
Patterns of genetic variation within and between populations
Management and processing of whole genome sequence data
Whole genome sequencing in complex and rare diseases
Human evolution
Functional analysis of variation
Genome sequencing: the past, present and future
Scientific programme committee
Richard Durbin, Wellcome Trust Sanger Institute, UK
Goncalo Abecasis, University of Michigan, USA
David Altshuler, Broad Institute of Harvard and MIT, USA
Lisa Brooks, National Human Genome Research Institute, USA
Gil McVean, University of Oxford, UK
For further information, visit the Wellcome Trust Scientific Conferences Page
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.