Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.

ABSTRACT: Auditory neuropathy spectrum disorder (ANSD) associated with mutations of the OTOF gene is one of the common types of sensorineural hearing loss of a hereditary nature. Due to its high genetic heterogeneity, ANSD is considered one of the most difficult hearing disorders to diagnose. The dataset from 270 known annotated single amino acid substitutions (SAV) related to ANSD was created. It was used to estimate the accuracy of pathogenicity prediction using the known (from dbNSFP4.4) method and a new one. The new method (ConStruct) for the creation of the protein-centric classification model is based on the use of Random Forest for the analysis of missense variants in exons of the OTOF gene. A system of predictor variables was developed based on the modern understanding of the structure and f

SUBMITTER: Dmitriev DA 

PROVIDER: S-EPMC10743402 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature