Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants
Çiğdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary, Girish N. Nadkarni, Tielman Van Vleck, Anne Puel, Stéphanie Boisson‐Dupuis, Satoshi Okada, Peter D. Stenson, D.N. Cooper, Avner Schlessinger, Yuval Itan
Topics & Concepts
GeneBiologyGeneticsFunction (biology)PhenotypeComputational biologyMutationLoss functionDiscriminative modelComputer scienceArtificial intelligenceGenomics and Rare DiseasesRNA and protein synthesis mechanismsCRISPR and Genetic Engineering