A standard variation file format for human genome sequences

Reese, Martin G., Barry Moore, Colin Batchelor, Fidel Salas, Fiona Cunningham, Gabor Marth, Lincoln Stein, Paul Flicek, Mark Yandell, and Karen Eilbeck. “A standard variation file format for human genome sequences”. Genome Biology, 2010. doi:10.1186/gb-2010-11-8-r88.
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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.

Title
A standard variation file format for human genome sequences
Author
Reese, Martin G.
Moore, Barry
Batchelor, Colin
Salas, Fidel
Cunningham, Fiona
Marth, Gabor
Stein, Lincoln
Flicek, Paul
Yandell, Mark
Eilbeck, Karen
School
Arts and Sciences
Discipline
Biology
Genre
article
Date Issued
2010
Host Title
Genome Biology
Volume
11
Number
8
Version Identification
Version of record.
Persistent Link
http://hdl.handle.net/2345/3253
Use Restrictions
This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Subject
Bioinformatics--Genome studies--Methods

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