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CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
Moreno-Cabrera, José Marcos; Del Valle, Jesús; Castellanos, Elisabeth; Feliubadaló, Lidia; Pineda, Marta; Serra, Eduard; Capellá, Gabriel; Lázaro, Conxi; Gel, Bernat.
Afiliação
  • Moreno-Cabrera JM; Hereditary Cancer Group, Program for Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
  • Del Valle J; Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, 08908 Barcelona, Spain.
  • Castellanos E; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red Cáncer (CIBERONC), 28029 Madrid, Spain.
  • Feliubadaló L; Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, 08908 Barcelona, Spain.
  • Pineda M; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red Cáncer (CIBERONC), 28029 Madrid, Spain.
  • Serra E; Hereditary Cancer Group, Program for Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
  • Capellá G; Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Germans Trias i Pujol University Hospital (HUGTiP), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
  • Lázaro C; Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, 08908 Barcelona, Spain.
  • Gel B; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red Cáncer (CIBERONC), 28029 Madrid, Spain.
Bioinformatics ; 37(22): 4227-4229, 2021 11 18.
Article em En | MEDLINE | ID: mdl-33983414

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Espanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Espanha