Peter J. Campbell

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.

The paper shows that human centromeres and neocentromeres evolve epigenetically, with instability linked to loss of heterochromatin boundaries and CENP-A overexpression.

The paper shows that persistent mutation burdens in alveolar progenitor cells after smoking cessation explain the continued risk of lung adenocarcinoma compared to squamous cell carcinoma.

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.

This study identifies somatic and germline mutational signatures across 661 species, revealing greater diversity than in human samples, likely due to environmental or biological factors.

The paper identifies somatic TYK2 mutations in TILs that enhance anti-cancer immunity and shows their therapeutic potential through mouse models.

This study uses sperm sequencing to show that positive selection in the male germline leads to a higher risk of disease-causing mutations in offspring.

This study investigates how DNMT3A-R882 mutations affect HSC differentiation into immune cells, finding they drive dysfunctional neutropoiesis linked to immune dysregulation and inflammatory disease risk.

This study examines the long-term effects of chemotherapy on normal blood cells by analyzing mutation burdens and cell population structure in treated individuals.

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.

This study examines clonal dynamics and somatic evolution in mouse haematopoiesis, finding that stem cells accrue mutations at a rate similar to human progenitors and exhibit distinct age-related patterns.

The paper introduces a high-accuracy sequencing method to detect somatic mutations in tissues, revealing extensive selection and driver mutations in oral epithelium and blood samples.

This study shows that JAK inhibition increases uSTAT5 levels, which promotes HSC maintenance and stemness, and reveals a new role for uSTAT5 in controlling HSC function.

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

The paper uses long-read sperm sequencing to analyze non-crossover recombination events, finding variation in recombination rates and distinct mechanisms for non-crossover gene conversions.

The paper introduces a software tool to detect DUX4 rearrangements from whole-genome sequencing data, showing it can identify known and previously unidentified cases in a cohort of paediatric ALL patients.

This study identifies de novo structural variants in a large cohort of rare disease patients, highlighting their prevalence and potential pathogenicity.

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.

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.

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.

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

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 analyzes the mutational landscape of normal lymphocytes, revealing off-target effects of programmed genome engineering and the impact of differentiation and microenvironment exposure.

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.

This study uses whole genome sequencing of placental biopsies to show that human placentas exhibit clonal expansions, copy number changes, and developmental bottlenecks similar to childhood cancer.

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

The paper quantifies tumor-specific total mRNA expression from bulk data and shows its association with clinical outcomes across 15 cancer types.

This study identifies genomic and methylation patterns associated with benign metastases and malignant transformation in giant cell tumour of bone.

The paper analyzes whole-genome sequencing data from melanoma metastases to show that branched evolution is common and that subclonal heterogeneity is prevalent in metastatic melanoma.