David D.L. Bowtell

TumorLens detects genetic and epigenetic alterations in cancer using long reads, revealing key somatic events and methylation patterns across tumor samples.

This study shows that DNMT1 inhibitors reduce BRCA1 promoter methylation in HGSOC, leading to BRCA1 re-expression and PARP inhibitor resistance.

This study uses exome sequencing to identify HELB as a novel susceptibility gene for non-high grade serous epithelial ovarian cancer, with a strong association found in genetic analyses.

This study combines DNA sequencing and gene-expression profiling with clinical data to improve diagnosis of cancer of unknown primary (CUP), identifying potential tissue origins in over a third of cases.

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.

The paper identifies hundreds of genes deregulated by SVs in cancer, showing increased expression linked to SV breakpoints and enhancer elements.