A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

ABSTRACT:

Introduction

The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents face a diagnostic odyssey when searching for a cause of their infant's hearing loss. Through the Melbourne Genomics Health Alliance, a prospective cohort of infants will be offered whole-exome sequencing (WES) with targeted analysis in conjunction with chromosome microarray to determine the genetic causes of congenital hearing loss. Parents will also be offered the opportunity to receive additional results from their infant's WES.

Methods

Eligible infants will be identified through the Victorian Infant Hearing Screening Program and offered an appointment in a paediatrician-run clinic, a genetics assessment and enrolment in the Victorian Childhood

SUBMITTER: Downie L 

PROVIDER: S-EPMC5862171 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature