Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

ABSTRACT:

Motivation

The analysis of cancer genomes provides fundamental information about its etiology, the processes driving cell transformation or potential treatments. While researchers and clinicians are often only interested in the identification of oncogenic mutations, actionable variants or mutational signatures, the first crucial step in the analysis of any tumor genome is the identification of somatic variants in cancer cells (i.e. those that have been acquired during their evolution). For that purpose, a wide range of computational tools have been developed in recent years to detect somatic mutations in sequencing data from tumor samples. While there have been some efforts to benchmark somatic variant calling tools and strategies, the extent to which variant calling decisions impa

SUBMITTER: Garcia-Prieto CA 

PROVIDER: S-EPMC9191211 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature