Example: Tumor Mutational Burden calculation

Tumor Mutational Burden calculation

Ion Reporter™ Software uses TMB Algorithm v4.0:

where

• TMB is Tumor Mutational Burden

• SM is Somatic Mutations

Note: In Ion Reporter™ Software 5.12 and later, you can control how somatic mutations are calculated. You can also select between Exonic bases or all of the genomic bases that are covered by the panel. Similarly, the ‘Sufficient Coverage’ threshold can be modified. By default, the TMB calculation are done using Total Exonic Bases with ≥60bp coverage.

The following settings apply:

• applyTMBStandardization: Customizable parameter (default value: off)

• standardization intercept: TMB Standardization Factor: Intercept (default value: 0)

• standardization slope: TMB Standardization Factor: Slope (default value: 1)

It is apparent from the values that even if the standardization is enabled with the current default values, the TMB score value will not be adjusted until the user provides values for the intercept and the slope.

Note: Standardization is independent of the germline calibration.