Tumor mutational burden from tumor-only sequencing compared with germline subtraction from paired tumor and normal specimens
Importance Tumor mutation burden (TMB) is an emerging factor associated with survival
with immunotherapy. When tumor-normal pairs are available, TMB is determined by
calculating the difference between somatic and germline sequences. In the case of
commonly used tumor-only sequencing, additional steps are needed to estimate the somatic
alterations. Computational tools have been developed to determine germline contribution
based on sample copy state, purity estimates, and occurrence of the variant in population …
with immunotherapy. When tumor-normal pairs are available, TMB is determined by
calculating the difference between somatic and germline sequences. In the case of
commonly used tumor-only sequencing, additional steps are needed to estimate the somatic
alterations. Computational tools have been developed to determine germline contribution
based on sample copy state, purity estimates, and occurrence of the variant in population …
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