SUPR
Whole genome sequencing of Addison patients
Dnr:

sens2018526

Type:

SNIC SENS

Principal Investigator:

Daniel Eriksson

Affiliation:

Karolinska Institutet

Start Date:

2018-02-22

End Date:

2025-04-01

Primary Classification:

30205: Endocrinology and Diabetes

Webpage:

Allocation

Abstract

Autoimmune Addison's disease is the most common cause of primary adrenal failure. It is caused by an autoimmune destruction of the adrenal cortex. Not much is known about the aetiology, but the extraordinary high heritability and aggregation in families are good incentives for genetic studies. Today, only a minor fraction of cases has a monogenic cause. We are undertaking a WGS of about 150 AAD cases representative of early disease onset and/or affected families. Sequencing is performed at the NGI Sthlm and delivery date is expected to be next week (2018-02-14). The aim will be to identify potential candidate causal variants. We will align sequencing reads and call variants according to the best practices recommendations (GATK toolkit) for single sample all sites-calling. After joint genotyping, we will annotate the variants with available allele frequencies and severity predictions (sift, polyphen, gerp, clinvar) from the public domain. We will also be able to compare rare variants with the SweGen variant frequency database. Thereafter, we will make a sql database for fast access of genetic variants.