Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

BACKGROUND: Genotypes generated in next generation sequencing studies contain errors which can significantly impact the power to detect signals in common and rare variant association tests. These genotyping errors are not explicitly filtered by the standard GATK Variant Quality Score Recalibration (...

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Main Authors: Carson, Andrew R, Smith, Erin N, Matsui, Hiroko, Brækkan, Sigrid K, Jepsen, Kristen, Hansen, John-Bjarne, Frazer, Kelly A
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Methodology Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4098776/
https://ncbi.nlm.nih.gov/pubmed/24884706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-125
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