Sunday, 11 December 2011

Another gold mine of genomic variations available

Digging in the internet I found that on Nov 16th the NHLBI Exome Sequencing Project (ESP) has released the data relative to the sequencing of approx. 5400 (yes, 5400!!!) exomes on their Exome Variant Server.
You can select as a query either your gene of interest or a particular chromosomal region. The SNV data can be downloaded in either text or vcf format.
The goal of the NHLBI GO Exome Sequencing Project (ESP) "is to discover novel genes and mechanisms contributing to heart, lung and blood disorders by pioneering the application of next-generation sequencing of the protein coding regions of the human genome across diverse, richly-phenotyped populations and to share these datasets and findings with the scientific community to extend and enrich the diagnosis, management and treatment of heart, lung and blood disorders". The study has been performed on European American and African American populations.

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