Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing loss to investigate pathogenic and likely pa...

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Bibliographic Details
Main Authors: Caio Robledo D’ Angioli Costa Quaio, Antonio Victor Campos Coelho, Livia Maria Silva Moura, Rafael Lucas Muniz Guedes, Kelin Chen, Jose Ricardo Magliocco Ceroni, Renata Moldenhauer Minillo, Marcel Pinheiro Caraciolo, Rodrigo de Souza Reis, Bruna Mascaro Cordeiro de Azevedo, Maria Soares Nobrega, Anne Caroline Barbosa Teixeira, Matheus Martinelli Lima, Thamara Rayssa da Mota, Marina Cadena da Matta, Gabriela Borges Cherulli Colichio, Aline Lulho Roncalho, Ana Flavia Martinho Ferreira, Gabriela Pereira Campilongo, Eduardo Perrone, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Marina de França, Murilo Castro Cervato, Tatiana Ferreira de Almeida, Joao Bosco de Oliveira Filho
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
nonsyndromic hearing loss
hearing loss
deafness
genomics
whole genome sequencing
GJB2 (C×26) gene mutations
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.921324/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.921324/full

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