Yvette E. Hooks

A comprehensive atlas of somatic mutation rates and mutational signatures in normal human cells

The paper reports mutation rates and mutational signatures across 53 normal human cell types, revealing variation in mutation accumulation and identifying known and unknown mutational processes.

Systemic mutagen exposures reported by normal kidney cell genomes

The paper identifies mutational signatures in normal kidney cells from multiple countries, revealing exposure to exogenous mutagens including aristolochic acids and unknown agents prevalent in Japan.

The somatic mutation landscape of normal gastric epithelium

This study uses whole-genome sequencing to analyze somatic mutations in normal gastric epithelium, revealing mutation rates, clonal dynamics, and associations with cancer risk factors.

Cancer-independent, second somatic NF1 mutation of normal tissues in neurofibromatosis type 1

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.

Convergent evolution of somatic escape variants in SERPINA1 in the liver in alpha-1 anti-trypsin deficiency

The paper identifies convergent somatic escape variants in SERPINA1 in A1AT deficiency patients, showing adaptive mutations that counteract the disease-causing germline variant.

The mutational landscape of human somatic and germline cells

This study compares mutational landscapes in somatic and germline cells across 29 anatomical structures, identifying key mutational signatures and their contributions to different cell types.

Somatic mutation rates scale with lifespan across mammals

This study finds that somatic mutation rates per year decrease with species lifespan across mammals, suggesting evolutionary constraints on mutagenesis and its role in ageing.

Multi-regional characterisation of renal cell carcinoma and microenvironment at single cell resolution

A multi-regional single-cell study of kidney tumours reveals clonotypic heterogeneity, immune cell exhaustion, and potential therapeutic targets through transcriptomic and exomic analysis.

Life without mismatch repair

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.

Extensive phylogenies of human development reveal variable embryonic patterns

The paper reconstructs phylogenies of human development using whole-genome sequencing to show variable embryonic patterns and lineage asymmetries across individuals and tissues.

Somatic evolution in non-neoplastic IBD-affected colon

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

Lineage tracing of human embryonic development and foetal haematopoiesis through somatic mutations

This study uses whole-genome sequencing of single-cell haematopoietic colonies to trace lineage and divergence of embryonic and extra-embryonic tissues in human fetal development.