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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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Detalles Bibliográficos
Autores principales: Reese, Martin G, Moore, Barry, Batchelor, Colin, Salas, Fidel, Cunningham, Fiona, Marth, Gabor T, Stein, Lincoln, Flicek, Paul, Yandell, Mark, Eilbeck, Karen
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945790/
https://www.ncbi.nlm.nih.gov/pubmed/20796305
http://dx.doi.org/10.1186/gb-2010-11-8-r88
Descripción
Sumario: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.