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Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data.
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.
Afiliação
  • do Valle ÍF; Department of Physics and Astronomy, University of Bologna, Bologna, Italy.
  • Giampieri E; CAPES Foundation, Ministry of Education of Brazil, Brasília, DF, Brazil.
  • Simonetti G; Department of Physics and Astronomy, University of Bologna, Bologna, Italy.
  • Padella A; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
  • Manfrini M; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
  • Ferrari A; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
  • Papayannidis C; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
  • Zironi I; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
  • Garonzi M; Department of Physics and Astronomy, University of Bologna, Bologna, Italy.
  • Bernardi S; Department of Biotechnology, University of Verona, Verona, Italy.
  • Delledonne M; Unit of Blood Diseases and Stem Cell Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
  • Martinelli G; Department of Biotechnology, University of Verona, Verona, Italy.
  • Remondini D; Personal Genomics, Verona, Italy.
  • Castellani G; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
BMC Bioinformatics ; 17(Suppl 12): 341, 2016 Nov 08.
Article em En | MEDLINE | ID: mdl-28185561

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Genômica / Exoma / Neoplasias Tipo de estudo: Diagnostic_studies / Evaluation_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Genômica / Exoma / Neoplasias Tipo de estudo: Diagnostic_studies / Evaluation_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article