Henry Lee-Six

The paper uses whole genome sequencing to study cancer spread between monozygotic twins, revealing asymmetrical embryonic lineage contributions to the placenta and twins.

This study uses duplex sequencing to analyze platinum chemotherapy-induced mutagenesis in pediatric tissues, revealing extensive mutational signatures and tissue-specific effects.

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

This study shows that inherited MUTYH mutations increase somatic mutation rates and specific mutational signatures in normal human cells, contributing to cancer risk without causing premature aging.

This study tracks clonal dynamics in human haematopoiesis across age, finding that clonal diversity sharply declines after 70, driven by positive selection on many genes and loss of Y chromosome in males.

The paper shows that germline mutations in POLE or POLD1 lead to elevated mutation burdens in normal human cells and tissues, but do not cause premature aging or other phenotypic features beyond early-onset cancer.

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.

The paper analyzes somatic mutations in colonic crypts of IBD patients and controls, finding higher mutation rates and clonal expansions in IBD-affected tissue.