Litcius/Paper detail

A minimal role for synonymous variation in human disease

Ryan S. Dhindsa, Quanli Wang, Dimitrios Vitsios, Oliver S. Burren, Fengyuan Hu, James E. DiCarlo, Leonid Kruglyak, Daniel G. MacArthur, Matthew E. Hurles, Slavé Petrovski

2022The American Journal of Human Genetics33 citationsDOIOpen Access PDF

Topics & Concepts

Nonsynonymous substitutionSynonymous substitutionGeneticsBiologySilent mutationGeneMutationRNA splicingMutagenesisSequence (biology)Neutral theory of molecular evolutionGenomeMutation rateHuman genomeCodon usage biasRNAMissense mutationGenomics and Rare DiseasesGenomics and Phylogenetic StudiesCRISPR and Genetic Engineering