Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

• Main Authors: Rubén Cabanillas (Author), Marta Diñeiro (Author), Guadalupe A. Cifuentes (Author), David Castillo (Author), Patricia C. Pruneda (Author), Rebeca Álvarez (Author), Noelia Sánchez-Durán (Author), Raquel Capín (Author), Ana Plasencia (Author), Mónica Viejo-Díaz (Author), Noelia García-González (Author), Inés Hernando (Author), José L. Llorente (Author), Alfredo Repáraz-Andrade (Author), Cristina Torreira-Banzas (Author), Jordi Rosell (Author), Nancy Govea (Author), Justo Ramón Gómez-Martínez (Author), Faustino Núñez-Batalla (Author), José A. Garrote (Author), Ángel Mazón-Gutiérrez (Author), María Costales (Author), María Isidoro-García (Author), Belén García-Berrocal (Author), Gonzalo R. Ordóñez (Author), Juan Cadiñanos (Author)
• Formato: Livro
• Publicado em: BMC, 2018-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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), anal...