Source: 1000 Genomes Project

1000 Genomes/phase 1 - March release (ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20110521/)

This conversion of 1000 genomes data to HGVS nomenclature has been created for clinical use in the analysis of diagnostic variants. All use of 1000 genomes data must be in accordance with the 1000 genomes data release policy (http://www.1000genomes.org/data#DataUse). The conversion was done by the NGRL Manchester (NGRL.contact@cmft.nhs.uk).

The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype.

It was launched in January 2008 and is an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive.

http://www.1000genomes.org


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