Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants
Emidio Capriotti, Piero Fariselli
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