NGRL has launched a new tool to help clinical genetic scientists find variants in the latest 1000 Genomes Project dataset quickly and easily.

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.