TMB Tumor Mutation Burden

TMB Tumor Mutation Burden

3

HI,

Can someone help me with the formulae or a tool to identify the Tumor Mutation Burden from a Whole Exome Sequence?

Thanks,

Abilesh


Tumor


Mutation


Burden


Cancer


Exome

• 8.5k views

Note that the human exome size is ~30Mb. So you can take the number of somatic mutations in a given tumor sample an divide that by 30 to obtain the Mut/Mb value (normally > 4-6 is considered ‘hyper mutation’)

Or maybe you can try this tool

Just to add a little more confusion to this topic, there is another method implemented in Varlociraptor:

Varlociraptor enables an uncertainty aware computation of the tumor
mutational burden (TMB). TMB is usually defined as the number of
somatic, non-synonymous coding mutations per megabase of the measured
coding genome. … the TMB is calculated as expected value over the
posterior probabilities for each variant to be somatic. Hence, the TMB
estimate properly considers the uncertainty in the data. Moreover, as
we show a TMB estimate for each minimum allele frequency, it becomes
possible to reason over the clonal structure of the tumor, instead of
considering only a single overall number. We expect this to increase
the predictive power of the TMB.


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