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BCFtools/csq: haplotype-aware variant consequences

MOTIVATION: Prediction of functional variant consequences is an important part of sequencing pipelines, allowing the categorization and prioritization of genetic variants for follow up analysis. However, current predictors analyze variants as isolated events, which can lead to incorrect predictions...

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Bibliografiske detaljer
Udgivet i:Bioinformatics
Main Authors: Danecek, Petr, McCarthy, Shane A
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5870570/
https://ncbi.nlm.nih.gov/pubmed/28205675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx100
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