Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder
Dmitry A Dmitriev, Boris V Shilov, Michail M Polunin, Anton D Zadorozhny, Alexey A Lagunin, Éva Kereszturi · 2023
Read Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder by Dmitry A Dmitriev, Boris V Shilov, Michail M Polunin, Anton D Zadorozhny, Alexey A Lagunin, Éva Kereszturi (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10743402.txt.
Description
Researchers build a model to predict which gene changes cause a hearing disorder in this 2023 paper. The disorder, auditory neuropathy spectrum disorder, is tied to changes in the OTOF gene, which codes a protein called otoferlin that the inner ear needs.
The team gathered 270 known single amino acid changes in the gene and tested old prediction tools against a new model of their own. Their model uses a random forest fed with facts about the protein's shape and about how conserved each spot is across species. In cross checks it scored well on accuracy. Better prediction helps labs read sequencing results for patients with this hard to diagnose disorder.
Catalog record
| CREATOR | Dmitry A Dmitriev, Boris V Shilov, Michail M Polunin, Anton D Zadorozhny, Alexey A Lagunin, Éva Kereszturi |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 36 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |