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SPDI: data model for variants and applications at NCBI

MOTIVATION: Normalizing sequence variants on a reference, projecting them across congruent sequences and aggregating their diverse representations are critical to the elucidation of the genetic basis of disease and biological function. Inconsistent representation of variants among variant callers, l...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Bioinformatics
Prif Awduron: Holmes, J Bradley, Moyer, Eric, Phan, Lon, Maglott, Donna, Kattman, Brandi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7523648/
https://ncbi.nlm.nih.gov/pubmed/31738401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btz856
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