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Article

Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies.

Genome medicine - 3 Jul 2025

Ferrer-Torres Patricia, Galván-Femenía Iván, Supek Fran

Abstract excerpt

BACKGROUND: Mutational signatures are increasingly used to understand the mechanisms causing cancer. However, their important applications in predicting prognosis and stratifying patients for therapy are hampered by inaccurate inference of the various featureless, dense trinucleotide mutational spectra, which are often confounded with one another. One of them is the homologous recombination deficiency...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40611295
DOI: 10.1186/s13073-025-01497-7
PMCID: PMC12232013

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