Article
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
BMC medical genomics - 9 Jul 2018
Cabanillas Rubén, Diñeiro Marta, Cifuentes Guadalupe A, Castillo David, Pruneda Patricia C, Álvarez Rebeca, Sánchez-Durán Noelia, Capín Raquel, Plasencia Ana, Viejo-Díaz Mónica, García-González Noelia, Hernando Inés, Llorente José L, Repáraz-Andrade Alfredo, Torreira-Banzas Cristina, Rosell Jordi, Govea Nancy, Gómez-Martínez Justo Ramón, Núñez-Batalla Faustino, Garrote José A, Mazón-Gutiérrez Ángel, Costales María, Isidoro-García María, García-Berrocal Belén, Ordóñez Gonzalo R, Cadiñanos Juan
Abstract excerpt
BACKGROUND: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genomic regions (gene panel/exome/genome), analytical performance and variant interpretation remain relevant difficulties for its clinical implementation. METHODS: We...
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