Sarah Moody

The paper reports mutation rates and mutational signatures across 53 normal human cell types, revealing variation in mutation accumulation and identifying known and unknown mutational processes.

The paper identifies and validates a previously missed mutational signature in microsatellite-stable colorectal cancer, showing it is distinct from known signatures and not caused by canonical DNA repair defects.

The paper identifies mutational signatures in normal kidney cells from multiple countries, revealing exposure to exogenous mutagens including aristolochic acids and unknown agents prevalent in Japan.

This study examines the long-term effects of chemotherapy on normal blood cells by analyzing mutation burdens and cell population structure in treated individuals.

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.

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.