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Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants

Emidio Capriotti, Piero Fariselli

2022Human Genetics15 citationsDOI

Topics & Concepts

Missense mutationBiologyComputational biologyGeneticsSequence (biology)Ranking (information retrieval)GenomeDNA sequencingMultiple sequence alignmentSequence alignmentMutationComputer scienceDNAMachine learningPeptide sequenceGeneGenomics and Phylogenetic StudiesGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants | Litcius