Precision Phenotyping With Audiometric Data and Gene Discovery for Sensorineural Hearing Loss

In this genetic association study, precision phenotyping using audiometric PTAs improved genetic discovery for SNHL compared with diagnostic code–based approaches. Higher heritability estimates, identification of genome-wide significant loci, and stronger polygenic risk estimation indicate that quantitative hearing measures better capture genetic architecture, supporting precision medicine in hearing health.

Corresponding Author: Taha A. Jan, MD, Department of Otolaryngology–Head taha.a.jan@vumc.org).

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