title: A standard variation file format for human genome sequences.
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.
authors.affiliation: Omicia, 2200 Powell Street, Suite 525, Emeryville, CA 94608, USA. mreece@omicia.com
authors.forename: Martin G
authors.initials: MG
authors.lastname: Reese
authors.forename: Barry
authors.initials: B
authors.lastname: Moore
authors.forename: Colin
authors.initials: C
authors.lastname: Batchelor
authors.forename: Fidel
authors.initials: F
authors.lastname: Salas
authors.forename: Fiona
authors.initials: F
authors.lastname: Cunningham
authors.forename: Gabor T
authors.initials: GT
authors.lastname: Marth
authors.forename: Lincoln
authors.initials: L
authors.lastname: Stein
authors.forename: Paul
authors.initials: P
authors.lastname: Flicek
authors.forename: Mark
authors.initials: M
authors.lastname: Yandell
authors.forename: Karen
authors.initials: K
authors.lastname: Eilbeck
mesh_terms: 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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