A standard variation file format for human genome sequences

被引：59

作者：

Reese, Martin G. ^{[1
]}

Moore, Barry ^{[3
,8
]}

Batchelor, Colin ^{[4
]}

Salas, Fidel ^{[1
]}

Cunningham, Fiona ^{[5
]}

Marth, Gabor T. ^{[6
]}

Stein, Lincoln ^{[7
]}

Flicek, Paul ^{[5
]}

Yandell, Mark ^{[3
,8
]}

Eilbeck, Karen ^{[2
]}

机构：

[1] Omicia, Emeryville, CA 94608 USA

[2] Univ Utah, Dept Biomed Informat, Salt Lake City, UT 84112 USA

[3] Univ Utah, Eccles Inst Human Genet, Salt Lake City, UT 84108 USA

[4] Royal Soc Chem, Cambridge CB4 0WF, England

[5] European Bioinformat Inst, EMBL Outstat Hinxton, Wellcome Trust, Cambridge CB10 1SD, England

[6] Boston Coll, Dept Biol, Chestnut Hill, MA 02467 USA

[7] Ontario Inst Canc Res, Toronto, ON M5G 0A3, Canada

[8] Univ Utah, Dept Human Genet, Salt Lake City, UT 84108 USA

来源：

GENOME BIOLOGY | 2010年 / 11卷 / 08期

关键词：

MICROARRAY EXPERIMENT MIAME; MINIMUM INFORMATION; ONTOLOGY; UNIFICATION; EVOLUTION; SUPPORT; TOOL;

D O I：

10.1186/gb-2010-11-8-r88

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

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