A real-world pan-cancer catalogue of mutational signatures from 111,711 tumors

Abstract excerpt

Tumor mutational signatures record the genomic footprints of endogenous and exogenous mutagenic processes and can refine cancer diagnosis and treatment. However, their clinical translation has been limited because most reference catalogues and fitting algorithms are calibrated for whole-exome or whole-genome sequencing, whereas routine diagnostics often use targeted sequencing panels that sample uneven genomic reg...

Topics

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• Age Factors
• Base Sequence
• Chromosome Aberrations
• DNA Copy Number Variations
• Genome, Human
• Mutation
• Neoplasms
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

a0181b70-c593-5811-8e82-cd8bae02a462

DOI

10.1101/2023.05.18.23290188