Cryptic variation in the human mutation rate. Recurrent mutation in the ancestry of a rare variant. Nucleotide excision repair is impaired by binding of transcription factors to DNA. Differential DNA repair underlies mutation hotspots at active promoters in cancer genomes. ETS transcription factors induce a unique UV damage signature that drives recurrent mutagenesis in melanoma. Widespread transcriptional scanning in the testis modulates gene evolution rates. The shaping of cancer genomes with the regional impact of mutation processes. Extreme purifying selection against point mutations in the human genome. Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations. Understanding nucleotide excision repair and its roles in cancer and ageing. Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence. Characterizing mutagenic effects of recombination through a sequence-level genetic map. A generalizable deep learning framework for inferring fine-scale germline mutation rate maps.

A method to build extended sequence context models of point mutations and indels. Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans. An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. DNA cytosine methylation and heat-induced deamination. The mutational constraint spectrum quantified from variation in 141,456 humans. Signatures of mutational processes in human cancer. Population sequencing data reveal a compendium of mutational processes in the human germ line. Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes. The origin of human mutation in light of genomic data. Evolution of local mutation rate and its determinants. Variation in the mutation rate across mammalian genomes.

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