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Improving the Sequence Ontology terminology for genomic variant annotation

BACKGROUND: The Genome Variant Format (GVF) uses the Sequence Ontology (SO) to enable detailed annotation of sequence variation. The annotation includes SO terms for the type of sequence alteration, the genomic features that are changed and the effect of the alteration. The SO maintains and updates...

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Detalles Bibliográficos
Autores principales: Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham RS, Eilbeck, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520272/
https://www.ncbi.nlm.nih.gov/pubmed/26229585
http://dx.doi.org/10.1186/s13326-015-0030-4