A standard variation file format for human genome sequences

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...

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Veröffentlicht in:Genome Biology (Online Edition) 2010-01, Vol.11 (8), p.R88-R88, Article R88
Hauptverfasser: Reese, Martin G, Moore, Barry, Batchelor, Colin, Salas, Fidel, Cunningham, Fiona, Marth, Gabor T, Stein, Lincoln, Flicek, Paul, Yandell, Mark, Eilbeck, Karen
Format: Artikel
Sprache:eng
Schlagworte:
Applications software
Base Sequence
Databases, Nucleic Acid
DNA sequencing
Genetic Variation
Genome, Human - genetics
Humans
Information Storage and Retrieval
Internet
Method
Nucleotide sequencing
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Beschreibung
Zusammenfassung: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.
ISSN:1474-760X
1465-6906
1474-760X
1465-6914
DOI:10.1186/gb-2010-11-8-r88