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Impact of post-alignment processing in variant discovery from whole exome data

BACKGROUND: GATK Best Practices workflows are widely used in large-scale sequencing projects and recommend post-alignment processing before variant calling. Two key post-processing steps include the computationally intensive local realignment around known INDELs and base quality score recalibration...

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Detalles Bibliográficos
Autores principales: Tian, Shulan, Yan, Huihuang, Kalmbach, Michael, Slager, Susan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048557/
https://www.ncbi.nlm.nih.gov/pubmed/27716037
http://dx.doi.org/10.1186/s12859-016-1279-z