Thursday, 30 October 2014

Exome Aggregation Consortium release its data on 63,000 exomes!

On October 29th, the Exome Aggregation Consoritum as released its browser based on the impressive number of 63,000 human exomes.
This database is the larger collection of human exome data so far and provide both a web base interface to retrieve variants in your gene of interest or the download of a VCF file containing the list of all the annotated variants.

The final dataset is based on sequences from several consortia working on complex disorders and also includes 1000G and ESP6500 data.

The first aim of the Consortium is to study the distribution of "human knockout", that is people having both copies of a given gene inactivated by severe mutations. The analysis of associated phenotype data promise to reveal lot of interesting information of the actual role of single human genes. Moreover, the study of subjects carrying inactivating mutations on known disease genes but not showing the expected phenotype could lead to identification of new therapeutic targets.

See more information on Nature News and Genome Web!