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.

TMBleR, a bioinformatic tool to optimize TMB estimation and predictive power / L. Fancello, A. Guida, G. Frige, A.G. Michel Ceol, G. Babini, G.L. Scaglione, M. Zanfardino, T. Mazza, L. Ferrando, P.G. Pelicci, L. Mazzarella. - In: BIOINFORMATICS. - ISSN 1367-4811. - 38:6(2021), pp. 1724-1726. [10.1093/bioinformatics/btab836]

TMBleR, a bioinformatic tool to optimize TMB estimation and predictive power

G. Frige;P.G. Pelicci
Penultimo
;
L. Mazzarella
Ultimo
2021

Abstract

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.
Settore MED/04 - Patologia Generale
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/930361
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