ENGINES: exploring single nucleotide variation in entire human genomes.

ABSTRACT:

Background

Next generation ultra-sequencing technologies are starting to produce extensive quantities of data from entire human genome or exome sequences, and therefore new software is needed to present and analyse this vast amount of information. The 1000 Genomes project has recently released raw data for 629 complete genomes representing several human populations through their Phase I interim analysis and, although there are certain public tools available that allow exploration of these genomes, to date there is no tool that permits comprehensive population analysis of the variation catalogued by such data.

Description

We have developed a genetic variant site explorer able to retrieve data for Single Nucleotide Variation (SNVs), population by population, from entire genome

SUBMITTER: Amigo J 

PROVIDER: S-EPMC3107182 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature