Cholesteatoma - rare variant discovery

Introduction

Cholesteatoma is a rare disorder that is characterised by a large mass of keratinising epithelium in the middle ear. The aetiology of the disease is largely unknown, therefore the UEA MED cholesteatoma genetics team utilised whole exome sequencing to identify germline mutants that may explain these clinical outcomes. We utilised our germline variant discovery pipeline (as described in the pipeline section) to analyse these samples. Below shows an example of some of the analyses included in the report generated for this project: