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TMBleR: a bioinformatic tool to optimize TMB estimation and predictive power.
Fancello, Laura; Guida, Alessandro; Frige, Gianmaria; Ceol, Arnaud Gerard Michel; Babini, Gabriele; Scaglione, Giovanni Luca; Zanfardino, Mario; Mazza, Tommaso; Ferrando, Lorenzo; Pelicci, Pier Giuseppe; Mazzarella, Luca.
Afiliação
  • Fancello L; Unité Biosanté, Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Grenoble, France.
  • Guida A; Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
  • Frige G; Biomedical Translational Imaging Centre, IWK Health Center, Halifax, NS, Canada.
  • Ceol AGM; Department of Diagnostic Radiology, Dalhousie University, Halifax, NS, Canada.
  • Babini G; Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
  • Scaglione GL; Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy.
  • Zanfardino M; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
  • Mazza T; Laboratory of Molecular Oncology, IDI-IRCCS, Rome, Italy.
  • Ferrando L; Laboratory of Bioinformatics and Statistics, IRCCS SDN, Naples, Italy.
  • Pelicci PG; Laboratory of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy.
  • Mazzarella L; Dipartimento di Medicina Interna, Università Degli Studi di Genova, Genova, Italy.
Bioinformatics ; 38(6): 1724-1726, 2022 03 04.
Article em En | MEDLINE | ID: mdl-34927668
MOTIVATION: Tumor mutational burden (TMB) has been proposed as a predictive biomarker for immunotherapy response in cancer patients, as it is thought to enrich for tumors with high neoantigen load. TMB assessed by whole-exome sequencing is considered the gold standard but remains confined to research settings. In the clinical setting, targeted gene panels sampling various genomic sizes along with diverse strategies to estimate TMB were proposed and no real standard has emerged yet. RESULTS: We provide the community with TMBleR, a tool to measure the clinical impact of various strategies of panel-based TMB measurement. AVAILABILITY AND IMPLEMENTATION: R package and docker container (GPL-3 Open Source license): https://acc-bioinfo.github.io/TMBleR/. Graphical-user interface website: https://bioserver.ieo.it/shiny/app/tmbler. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Bioinformatics Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Bioinformatics Ano de publicação: 2022 Tipo de documento: Article