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.