Article
Benchmarking bioinformatics approaches for tumour mutational burden evaluation from a large cancer panel against whole-exome sequencing.
Journal of clinical pathology - 1 Apr 2023
Pang Jiuhong, Xia Hongai, Mi Shijun, Zhang Wen, Pendrick Danielle, Freeman Christopher, Fernandes Helen, Mansukhani Mahesh, Hsiao Susan J
Abstract excerpt
Tumour mutational burden (TMB) is used to predict response to immunotherapies. Although several groups have proposed calculation methods for TMB, a clear consensus has not yet emerged. In this study, we explored TMB calculation approaches with a 586-gene cancer panel (1.75 Mb) benchmarked to TMB measured by whole-exome sequencing (WES), using 30 samples across a range of tumour types. We explored variant allelic...
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