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Article

A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden.

American journal of human genetics - 1 Feb 2024

Taraszka Kodi, Groha Stefan, King David, Tell Robert, White Kevin, Ziv Elad, Zaitlen Noah, Gusev Alexander

Abstract excerpt

Tumor mutational burden (TMB), the total number of somatic mutations in the tumor, and copy number burden (CNB), the corresponding measure of aneuploidy, are established fundamental somatic features and emerging biomarkers for immunotherapy. However, the genetic and non-genetic influences on TMB/CNB and, critically, the manner by which they influence patient outcomes remain poorly understood. Here, we present a...

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Identifiers

PMID: 38211585
DOI: 10.1016/j.ajhg.2023.12.010
PMCID: PMC10870141

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