Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data

BACKGROUND: Detecting somatic mutations in whole exome sequencing data of cancer samples has become a popular approach for profiling cancer development, progression and chemotherapy resistance. Several studies have proposed software packages, filters and parametrizations. However, many research grou...

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Vydáno v:BMC Bioinformatics
Hlavní autoři: do Valle, Ítalo Faria, Giampieri, Enrico, Simonetti, Giorgia, Padella, Antonella, Manfrini, Marco, Ferrari, Anna, Papayannidis, Cristina, Zironi, Isabella, Garonzi, Marianna, Bernardi, Simona, Delledonne, Massimo, Martinelli, Giovanni, Remondini, Daniel, Castellani, Gastone
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5123378/
https://ncbi.nlm.nih.gov/pubmed/28185561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-016-1190-7
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