04 April 2022

Beyond being a major contributor to The Cancer Genome Atlas (TCGA) projects, leading various analyses in many of the TCGA manuscripts (including co-chairing the papillary thyroid cancer paper, the first to use whole-genomes to study tumors without coding drivers (Integrated genomic characterization of papillary thyroid cancer, Cell 2014)), we helped lead TCGA into its next phase with the Pan-cancer Analysis of Whole Genomes (PCAWG) effort of TCGA and ICGC, contributing to several of the 23 papers released across the Nature journals in February 2020, including the flagship paper (The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Nature 2020). In one of our studies, we searched for drivers in the non-coding regions (~99% of the genome) in whole genomes from cancer patients by employing our statistically rigorous strategies to analyze both point mutations and structural variants (Rheinbay, Nielsen, Abascal, Wala, Shapira, et al. Nature 2020). Although we discovered a few novel non-coding driver genes (e.g., point mutations in the 5′ region of TP53), our study revealed that cancer drivers in non-coding regions are relatively rare, with the vast majority of drivers (87%) occurring in just the ~1% of the genome that is protein-coding.