Our genomes accumulate mutations throughout life, but their consequences depend not only on how often they arise, but also on when and where they occur and the fate of the cells carrying them. My research combines germline and somatic genomics to understand how inherited genetics, ageing and environmental exposures shape mutational landscape and clonal evolution.
A major focus of our work has been the germline. We have helped define the developmental origins of human de novo mutations and parental mosaicism (Rahbari et al., 2016), and used comparative studies across species to investigate the mechanisms and evolutionary forces shaping germline mutation (Lindsay et al., 2019; Stendahl et al., 2023). More recently, our direct sequencing of human sperm revealed widespread positive selection in the ageing male germline (Neville et al., 2025), while complementary analysis of large parent–offspring cohorts has shown how clonal expansion in spermatogonia can alter the frequency with which particular mutations reach the next generation (Seplyarskiy et al., 2025). Long-read sequencing has further uncovered an unexpected pre-meiotic contribution to gene conversion in sperm (Schweiger et al., 2026). We are now investigating the mechanisms that shape germline evolution across development and ageing, combining studies in humans with comparative and experimental systems to understand how genetic, cellular and environmental factors influence mutation, selection and transmission across species.
Our work in somatic evolution has used naturally occurring mutations to reconstruct the developmental histories and mutational landscapes of cells across the human body (Moore, Cagan, Coorens et al., 2021; Coorens, Moore et al., 2021). Building on this, we are investigating how inherited predisposition reshapes somatic evolution, how germline variants alter mutational processes, cellular states and the selection of somatic clones across normal tissue, precancer and cancer. We also study how environmental and therapeutic exposures perturb mutagenesis and clonal dynamics across tissues.
Across these areas, we develop and apply high-accuracy, single-cell and spatial multi-omics approaches to connect genotype with cellular phenotype and tissue architecture. Our broader aim is to understand the fate of mutations from their developmental origins and selection within tissues to their consequences for disease and inheritance.
My timeline
Became a Faculty Group Leader at the Sanger Institute
Cancer Research UK Career Development Fellowship
Senior PDF in Voets Faculty Single Cell Genomics Group | Sanger Institute
PDF in Hurles Faculty Department of Human Genetics | Sanger Institute
PhD awarded in Medical Genetics | University of Leicester