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References from Sequence effects on mutation rates investigated in whole-genome sequenced UK Biobank participants. Local targets link to admitted publications; unresolved targets remain external evidence.
An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
10.1038/ng.3511 · 2016 · External reference
The repertoire of mutational signatures in human cancer
10.1038/s41586-020-1943-3 · 2020 · External reference
Complete genomic and epigenetic maps of human centromeres
10.1126/science.abl4178 · 2022 · External reference
Gene regulation of mammalian long non-coding RNA
10.1007/s00438-017-1370-9 · 2018 · External reference
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
10.1038/s41467-018-05936-5 · 2018 · External reference
The transcript-centric mutations in human genomes
10.1016/s1672-0229(11)60029-6 · 2012 · External reference
Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease
10.1038/s41431-024-01675-y · 2024 · External reference
Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment
10.1093/bioinformatics/btad756 · 2023 · External reference
Limited role of generation time changes in driving the evolution of the mutation spectrum in humans
10.7554/elife.81188 · 2023 · External reference
Transcription-associated mutational asymmetry in mammalian evolution
10.1038/ng1103 · 2003 · External reference
Human genetics: characterizing mutagenic effects of recombination through a sequence-level genetic map
10.1126/science.aau1043 · 2019 · External reference
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
10.1038/nature24018 · 2017 · External reference
The number of heterozygous nucleotide sites maintained in a finite population due to steady flux of mutations
10.1093/genetics/61.4.893 · 1969 · External reference
The effect of mutation subtypes on the allele frequency spectrum and population genetics inference
10.1093/g3journal/jkad035 · 2023 · External reference
Prevalence and architecture of de novo mutations in developmental disorders
10.1038/nature21062 · 2017 · External reference
Large-scale gene function analysis with the PANTHER classification system
10.1038/nprot.2013.092 · 2013 · External reference
Timing, rates and spectra of human germline mutation
10.1038/ng.3469 · 2016 · External reference
Unresolved reference
2014 · External reference
Direct measurement of the male germline mutation rate in individuals using sequential sperm samples
10.1038/s41467-025-57507-0 · 2025 · External reference
Base-excision repair pathway shapes 5-methylcytosine deamination signatures in pan-cancer genomes
10.1038/s41467-024-54223-z · 2024 · External reference
COSMIC: a curated database of somatic variants and clinical data for cancer
10.1093/nar/gkad986 · 2023 · External reference
10.1101/2025.08.28.672844
10.1101/2025.08.28.672844 · External reference
COSMIC: the catalogue of somatic mutations in cancer
10.1093/nar/gky1015 · 2019 · External reference
Whole-genome sequencing of 490,640 UK biobank participants
10.1038/s41586-025-09272-9 · 2025 · External reference
Recurrent mutation in the ancestry of a rare variant
10.1093/genetics/iyad049 · 2023 · External reference
Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome
10.1101/gr.287302 · 2002 · External reference