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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Bibliographic Details
Main Authors: Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham RS, Eilbeck, Karen
Format: Text
Language:English
Published: BioMed Central 2015
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC4520272/
https://pubmed.ncbi.nlm.nih.gov/26229585
http://dx.doi.org/10.1186/s13326-015-0030-4
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