Steve Rozen

Benchmarking 13 tools for mutational signature attribution, including a new and improved algorithm

The paper benchmarks 13 mutational signature attribution tools, including a new method called PASA, on synthetic data to evaluate their performance across different cancer types.

mSigHdp: hierarchical Dirichlet process mixture modeling for mutational signature discovery

mSigHdp improves mutational signature discovery using hierarchical Dirichlet process mixture models, outperforming NMF-based methods on synthetic data.

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.

Family History Assessment Significantly Enhances Delivery of Precision Medicine in the Genomics Era

This study shows that family history collection improves the detection of pathogenic variants in genomic data, enhancing precision medicine by identifying high-risk individuals.

Identification of novel mutational signatures in Asian oral squamous cell carcinomas associated with bacterial infections

The paper identifies a novel mutational signature in Asian oral squamous cell carcinomas linked to bacterial infections, specifically colibactin.

Recurrent mutations in topoisomerase 2a cause a novel mutator phenotype in human cancers

The paper identifies a novel mutator phenotype, ID_TOP2A, caused by the TOP2A p.K743N mutation, characterized by specific small indels and associated with tumorigenesis.

SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events

SigProfilerMatrixGenerator classifies and visualizes small mutational events in cancer genomes, offering faster and more comprehensive analysis than existing tools.

Experimental analysis of exome-scale mutational signature of glycidamide, the reactive metabolite of acrylamide

The paper identifies a unique mutational signature of glycidamide, a metabolite of acrylamide, through experimental and computational analysis, linking it to cancer genome patterns.

Recurrent PD-L1 Structural Rearrangements in Natural Killer/T Cell Lymphoma Patients with Complete Response to PD-1 Blockade Therapy

The paper identifies recurrent PD-L1 structural rearrangements and JAK3 mutations in NKTL patients achieving CR with PD-1 blockade therapy, suggesting genomic screening may improve patient selection.