Article
Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens.
JAMA network open - 5 Feb 2020
Parikh Kaushal, Huether Robert, White Kevin, Hoskinson Derick, Beaubier Nike, Dong Haidong, Adjei Alex A, Mansfield Aaron S
Abstract excerpt
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...
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