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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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Publicado no: | Bioinformatics |
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Main Authors: | , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Oxford University Press
2017
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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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