mutational signature deconvolution
Computational process of identifying the relative contributions of different mutational processes to the overall mutation pattern observed in a tumor sample.
Full Definition
Mutational signature deconvolution is a bioinformatics approach that decomposes the complex mixture of mutations in a tumor into constituent mutational processes, each with characteristic patterns of base substitutions and sequence contexts. This analysis uses mathematical algorithms such as non-negative matrix factorization to separate overlapping signatures corresponding to different DNA damage and repair mechanisms, including UV exposure, smoking, APOBEC activity, and defective DNA repair pathways. The process requires comparison with reference signature databases like COSMIC signatures to identify known mutational processes. In cancer genomics reporting, signature deconvolution provides mechanistic insights into tumor etiology and can identify therapeutic vulnerabilities associated with specific DNA repair defects.
Usage
Usage note: Emphasize computational process versus simple signature identification.
In Context
- "Mutational signature deconvolution revealed predominant contributions from tobacco-related and APOBEC signatures." — Molecular etiology report
- "The deconvolution analysis identified DNA mismatch repair signature activity in 12% of cases." — Genomic characterization study