Samuel W. Brady

This study analyzes structural variants in 1,616 pediatric cancer genomes, revealing unique SV hotspots and patterns distinct from adult cancers.

The paper identifies differences in mtDNA mutation accumulation and selective pressures in pediatric leukemias using bulk and single-cell sequencing, linking these to functional heterogeneity among leukemic cells.

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.