Study SRP000032 Download

Title1000 Genomes Project Pilot 2. High coverage sequencing of 2 Trios (6 individuals).
Abstract1000 Genomes second pilot study: High coverage sequencing of two trios.

The purpose of the project is to support the discovery and understanding of genetic variants that influence human disease. Specifically defined goals are (a) the discovery of single nucleotide variants at frequencies of 1% or higher in diverse populations, (b) even more comprehensive discovery (variants down to frequencies of 0.1 - 0.5%) in functional gene regions, and (c) discovery of structural variants, such as copy number variants, other insertions and deletions, and inversions, including sequence-level understanding of breakpoints.

The volume of data generated by 1000genomes project is unprecedented. The data is accessible from two mirrored ftp sites at EBI and NCBI.

Referencesno content
OrganismsHomo sapiens
Descriptionno content
Related objects
Links1000 Genomes Project