1000 Genomes Dataset

Quick links: NGRL's 1000 Genomes Project Dataset [FTP download]>>

The 1000 Genomes Project aims to find most genetic variants that have frequencies of at least 1% in the populations studied. The outputs from this project are datasets that are of high value to genetic testing laboratories; however, the data are not always presented in the most useful way for clinical application. 

NGRL has downloaded the latest (phase 1 version 3) 1000 Genomes dataset and converted all exonic variants into HGVS format for every possible transcript. A data query tool has been created to enable genetic scientists to quickly search this reformatted dataset and obtain a population-based breakdown of the minor allele frequencies for specific variants. The data can be searched by individual variant, or for all variants within a specific transcript. Users can access the NGRL’s 1000 Genomes Project Variant Access tool at https://secure.ngrl.org.uk/1kg_querytool/. The NGRL’s 1000 Genomes dataset is also available for download by chromosome as tab delimited files.