Iñigo Martincorena

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.

This study develops human epithelioids as a 3D culture system that maintains architecture, heterogeneity, and clonal evolution over time, enabling long-term studies of tissue dynamics and therapeutic responses.

This study shows that HSC dormancy, not apoptosis, limits mutagenesis in aging, with dormancy disruption accelerating mutation rates.

This study identifies immunogenomic drivers of acquired resistance to immunotherapy across multiple cancer types using a large-scale clinicogenomic dataset.

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 paper identifies endogenous guanine adducts as drivers of tissue-specific mutagenesis and shows that Polκ and DNA repair mechanisms suppress these mutations.

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

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 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.

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 generates HLA-edited cholangiocyte organoids with reduced immunogenicity and reports their mutation profiles and immune response in vitro and in vivo.

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.

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

SigProfilerExtractor is a tool for de novo mutational signature extraction that outperforms existing methods and identifies four novel signatures, including one linked to tobacco smoking.

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.

The paper analyzes genomic variation in hiPSCs derived from skin and blood, finding high mutation rates in fibroblast-derived lines and frequent BCOR mutations in blood-derived lines.

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.

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.

This study analyzes within-host genetic diversity in 1,181 SARS-CoV-2 samples, finding high mutation rates, strand asymmetries, and purifying selection, with implications for transmission chain reconstruction.

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

SigProfilerSimulator generates realistic null mutational landscapes for cancer genomics to evaluate bioinformatics tools and statistical analyses.

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

This study shows that mutation spectra in C. elegans are shaped by both DNA damage and repair processes, with repair deficiencies altering mutation rates and spectra in many experimental conditions.

The paper integrates healthcare and research exome sequences to identify 28 novel developmental disorder-associated genes using a simulation-based statistical test.

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

The paper introduces the Cancer LncRNA Census (CLC), a curated resource of lncRNAs with causative roles in cancer, and shows their genomic and evolutionary features.