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Article

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

Bioinformatics (Oxford, England) - 13 Jun 2022

Garcia-Prieto Carlos A, Martínez-Jiménez Francisco, Valencia Alfonso, Porta-Pardo Eduard

Abstract excerpt

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...

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Identifiers

PMID: 35512388
DOI: 10.1093/bioinformatics/btac306
PMCID: PMC9191211

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