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Article

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

BMC bioinformatics - 8 Nov 2016

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

Abstract excerpt

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 groups reported low concordance among different methods. We aimed to develop a pipeline which detects a wide range of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28185561
DOI: 10.1186/s12859-016-1190-7
PMCID: PMC5123378

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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