학술논문
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
Document Type
article
Author
Kavita Praveen; Lee Dobbyn; Lauren Gurski; Ariane H. Ayer; Jeffrey Staples; Shawn Mishra; Yu Bai; Alexandra Kaufman; Arden Moscati; Christian Benner; Esteban Chen; Siying Chen; Alexander Popov; Janell Smith; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Olle Melander; Marcus B. Jones; Jonathan Marchini; Suganthi Balasubramanian; Brian Zambrowicz; Meghan C. Drummond; Aris Baras; Goncalo R. Abecasis; Manuel A. Ferreira; Eli A. Stahl; Giovanni Coppola
Source
Communications Biology, Vol 5, Iss 1, Pp 1-12 (2022)
Subject
Language
English
ISSN
2399-3642
Abstract
A GWAS and exome-wide association study meta-analysis identifies 53 loci affecting hearing loss risk from over half a million individuals across five cohorts. Rare variants in Mendelian hearing loss genes contribute to hearing loss risk in adults.