Addison's disease is an autoimmune disease characterised by inadequate production of cortisol. Genome-wide association studies have shown a strong genetic contribution to the risk of disease.
Using short read sequencing data from patients and healthy controls, we will perform a focused analysis of genetic regions that have previously been associated with Addison's disease. The analysis will be performed at multiple levels, including analysis of single nucleotide variants, indels, and copy number variation.