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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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Detalhes bibliográficos
Publicado no:J Biomed Semantics
Main Authors: Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham RS, Eilbeck, Karen
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520272/
https://ncbi.nlm.nih.gov/pubmed/26229585
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13326-015-0030-4
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