SUPR
Genetics of Addison's disease
Dnr:

sens2021589

Type:

SNIC SENS

Principal Investigator:

Christian Lundtoft

Affiliation:

Uppsala universitet

Start Date:

2021-10-25

End Date:

2024-11-01

Primary Classification:

30107: Medical Genetics

Allocation

  • Castor /proj/nobackup at UPPMAX: 4000 GiB
  • Castor /proj at UPPMAX: 4000 GiB
  • Cygnus /proj/nobackup at UPPMAX: 4000 GiB
  • Cygnus /proj at UPPMAX: 4000 GiB
  • Bianca at UPPMAX: 4 x 1000 core-h/month

Abstract

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.