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ReliableGenome: annotation of genomic regions with high/low variant calling concordance

MOTIVATION: The increasing adoption of clinical whole-genome resequencing (WGS) demands for highly accurate and reproducible variant calling (VC) methods. The observed discordance between state-of-the-art VC pipelines, however, indicates that the current practice still suffers from non-negligible nu...

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Detalhes bibliográficos
Publicado no:Bioinformatics
Main Authors: Popitsch, Niko, Schuh, Anna, Taylor, Jenny C
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5903559/
https://ncbi.nlm.nih.gov/pubmed/27605105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btw587
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