Nature · 2021 · 389 citations · 63 references
Life SciencesCell BiologyGeneticsGametogenesisHuman GeneticsGerm Cell DevelopmentGerm Cell DifferentiationGermline Stem CellsSomatic HypermutationSpermatogenesis GeneticsComparative Somatic Mutation AnalysisGerm Cell MutationsGermline Mutation AnalysisGermline MutationsMutational LandscapesMutational LoadSomatic Mutation AnalysisSomatic Mutations
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The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text
The GTEx Consortium atlas of genetic regulatory effects across human tissues
François Aguet, Shankara Anand, Kristin Ardlie et al. · Science · 2020 · 5.8K citations · Full text
The repertoire of mutational signatures in human cancer
Mi Ni Huang, Alvin Wei Tian Ng, Arnoud Boot et al. · Nature · 2020 · 3.7K citations · Full text
Life Sciences, Genetics, Oncology +14
Automated generation of heuristics for biological sequence comparison
Guy Slater, Ewan Birney · BMC Bioinformatics · 2005 · 3.2K citations · Full text
Rate of de novo mutations and the importance of father’s age to disease risk
Augustine Kong, Michael L. Frigge, Gísli Másson et al. · Nature · 2012 · 2.3K citations