Sergey Senkin

Human cancer genomes harbor the mutational signature of tobacco-specific nitrosamines NNN and NNK

The paper identifies mutational signatures in cancer genomes caused by tobacco-specific nitrosamines NNN and NNK, showing their unique contribution to specific cancer types.

Genome-scale multi-organ analysis of mutagenic effects of ethanol and acetaldehyde in Sprague Dawley rats

This study examines the mutagenic effects of ethanol and acetaldehyde in rats, finding exposure-specific mutational signatures and suggesting inflammation or oxidative damage as key factors in alcohol-related cancers.

Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment

SigProfilerAssignment refits known substitution, doublet, indel and copy-number mutational signatures to single samples and probabilistically to individual mutations, outperforming four refitting tools on 2,700 synthetic genomes.

Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

SigProfilerExtractor is a tool for de novo mutational signature extraction that outperforms existing methods and identifies four novel signatures, including one linked to tobacco smoking.

MSA: Reproducible mutational signature attribution with confidence based on simulations

MSA assigns mutational signatures to single samples using NNLS with uncertainty estimation, validated through simulations and reference signatures.