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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Bioinformatics
Main Authors: Tan, Adrian, Abecasis, Gonçalo R., Kang, Hyun Min
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
Teme:
Online dostop: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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