Vanessa Bianchi

This paper develops a single-molecule long-read sequencing method to detect single-strand DNA mismatches and damage, revealing their relationship to double-strand mutations and providing insights into mutation mechanisms in cancer and aging.

The paper quantifies mismatch repair (MMR) activity in human tissues by analyzing mutation rates in individuals with constitutional MMR deficiency, revealing genotype-specific mutational signatures and the role of MMR components in DNA repair.