Genome Biol. 2010;11(8):R88. Epub 2010 Aug 26.

A standard variation file format for human genome sequences.

Reese MG, Moore B, Batchelor C, Salas F, Cunningham F, Marth GT, Stein L, Flicek P, Yandell M, Eilbeck K.

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Omicia, 2200 Powell Street, Suite 525, Emeryville, CA 94608, USA. mreece@omicia.com

Abstract

Here we describe the Genome Variation Format (GVF) and the 10Gen dataset. GVF, an extension of Generic Feature Format version 3 (GFF3), is a simple tab-delimited format for DNA variant files, which uses Sequence Ontology to describe genome variation data. The 10Gen dataset, ten human genomes in GVF format, is freely available for community analysis from the Sequence Ontology website and from an Amazon elastic block storage (EBS) snapshot for use in Amazon's EC2 cloud computing environment.

PMID:: 20796305; [PubMed - indexed for MEDLINE]
PMCID:: PMC2945790

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