GeneticsPLoS GeneticsPeer-reviewed
The prevalence of protein misfolding as a mechanism for hereditary deafness
Rose A. Gogal, Genevieve M. Cox, Diana L. Kolbe…·Michael J. Schnieders
The paper evaluates computational frameworks to prioritize pathogenic variants in deafness-associated genes, identifying 28,866 VUSs with high pathogenicity probability and improving diagnoses for 12 patients.
DOI 10.1371/journal.pgen.1012085