Raviteja Vangara

This study evaluates how variant calling strategies affect mutational signature inference, finding that consensus calling reduces artifacts while preserving true signals.

The paper identifies two lung cancer subtypes defined by APOBEC mutagenesis levels and shows their association with different genetic mutations, aging, and immune responses.

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.

The paper introduces an updated tool for visualizing and exploring large mutational events in cancer genomes using two classification schemas.

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.