Exome sequencing of patient samples for Helse Bergen HF

Hanke lühikirjeldus

At Haukeland University Hospital, located in Bergen, Norway, the Customer has a patient registry for the rare disease primary autoimmune adrenal insufficiency (Addison’s disease) with a corresponding biobank. Addison’s is a polygenetic disease with high heritability. To investigate the genetic aetiology of the disease and to verify a previous GWAS study we wish to perform whole exome sequencing of up to 1000 patient tests on our biobank samples of DNA with the required purity and concentration.