A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.
Lilian DownieJane L HallidayRachel A BurtSebastian LunkeElly LynchMelissa MartynZeffie PoulakisClara GaffValerie SungMelissa WakeMatthew HunterKerryn SaundersElizabeth RoseHeidi L RehmDavid J AmorPublished in: BMJ paediatrics open (2017)
This project will provide descriptive analysis of the genetic aetiology of congenital hearing loss in this cohort and may provide data on genotype-phenotype correlations. Additionally, choices regarding additional findings will be analysed. Participants will represent a diverse cross section of the population, increasing the ability to generalise results beyond the study group. Evaluation surveys will allow analysis of preferences around counselling, usefulness of a decision aid and adequacy of information provision.