SUPR
Swedegene-WGS
Dnr:

sens2018106

Type:

SNIC SENS

Principal Investigator:

Mia Wadelius

Affiliation:

Uppsala universitet

Start Date:

2018-04-01

End Date:

2025-04-01

Primary Classification:

30223: Clinical Laboratory Medicine

Allocation

Abstract

Whole genome sequencing to identify genetic causes of adverse drug reactions (Swedegene-WGS) Our purpose is to use whole genome sequencing to find rare functional variants that increase the risk of adverse drug reactions (ADRs)in the Swedish population. We aim to: 1) sequence 1,036 cases with ADRs collected by the national biobank Swedegene 2) utilise 1,000 individuals from the SweGen Variant Frequency Database as controls 3) perform bioinformatic and statistical analyses to detect rare novel genetic risk factors We will compare the absolute number of variants in each gene between cases and controls using Burden test, and the dispersion of the observed effect sizes across each gene using SKAT-O. The functionality of the detected transcribed or putatively regulatory variants will be tested. Our study will increase the understanding of genetic causes of ADRs, and be crucial for the implementation of Precision Medicine in Sweden.