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Unified representation of genetic variants

Summary: A genetic variant can be represented in the Variant Call Format (VCF) in multiple different ways. Inconsistent representation of variants between variant callers and analyses will magnify discrepancies between them and complicate variant filtering and duplicate removal. We present a softwar...

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Bibliografiska uppgifter
I publikationen:Bioinformatics
Huvudupphovsmän: Tan, Adrian, Abecasis, Gonçalo R., Kang, Hyun Min
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2015
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4481842/
https://ncbi.nlm.nih.gov/pubmed/25701572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btv112
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