A standard variation file format for human genome sequences.
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.
Reese
Martin G
MG
Omicia, 2200 Powell Street, Suite 525, Emeryville, CA 94608, USA. mreece@omicia.com
Moore
Barry
B
Batchelor
Colin
C
Salas
Fidel
F
Cunningham
Fiona
F
Marth
Gabor T
GT
Stein
Lincoln
L
Flicek
Paul
P
Yandell
Mark
M
Eilbeck
Karen
K
D001483:Base Sequence; D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D016247:Information Storage and Retrieval; D020407:Internet
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