Fig. 2: Comprehensive study design for evaluating the key technical factors. | npj Precision Oncology

Fig. 2: Comprehensive study design for evaluating the key technical factors.

From: Enhancing the quality of panel-based tumor mutation burden assessment: a comprehensive study of real-world and in-silico outcomes

Fig. 2

a 17 tumor samples derived from four edited clones and a shared paired sample were prepared as the sample panel for real-world assessment. There were 50 panel-based TMB assays from 54 laboratories participating this study. The MC3 dataset was cleansed for the in silico experiment. b In real-world assessment, the truth set of somatic mutation, continuous and discrete wesTMB results of the gDNA samples were established using four WES assays and compared with the results of 50 panels to assess their performance of somatic mutation detection and TMB estimation. c Simulated experiment was used to explore the theoretically best performance of the real panels and synthetic panels with selected parameters.

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