Journal article

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

Lilian Downie, Jane L Halliday, Rachel A Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew Hunter, Kerryn Saunders, Elizabeth Rose, Heidi L Rehm, David J Amor

BMJ Paediatrics Open | Published : 2017


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 pa..

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