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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

2021The American Journal of Human Genetics56 citationsDOIOpen Access PDF

Topics & Concepts

GeneBiologyGeneticsFunction (biology)PhenotypeComputational biologyMutationLoss functionDiscriminative modelComputer scienceArtificial intelligenceGenomics and Rare DiseasesRNA and protein synthesis mechanismsCRISPR and Genetic Engineering
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants | Litcius