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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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Detalles Bibliográficos
Autores principales: Danecek, Petr, McCarthy, Shane A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870570/
https://www.ncbi.nlm.nih.gov/pubmed/28205675
http://dx.doi.org/10.1093/bioinformatics/btx100

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