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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta

2022The American Journal of Human Genetics86 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationBiologyCluster analysisGeneGeneticsExomeGenomeComputational biologyPathogenicityExome sequencingHuman genomeMutationMachine learningComputer scienceMicrobiologyGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity | Litcius