Tutorial: Polygenic Risk Score Analysis

IDDay | TimeLanguageSpeakersInstitution
ID331Sun 08.09.24 | 1.30-6 pmENH. Heyne 1 ,
J. Wanner 1 ,
I. Steinbrenner 2 ,
N. Walk 1 ,
P. F. Rissom 3 ,
S. Ibing
1HassoPlattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam
2Instituteof Genetic Epidemiology, Medical Center – University of Freiburg, Freiburg im Breisgau
3HassoPlattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam


In recent years, research has shown that common genetic variants with small effects on risk for specific diseases (identified with genome-wide association studies [GWAS]) can be combined into polygenic risk scores (PRSs). High disease-specific PRSs can confer risk with similar effect sizes as rare monogenic variants. Thus, interest in PRSs representing genetic disease liability is growing as a potential clinically relevant tool.

In this 4h tutorial, the human genetics working group of the GMDS and the IBS working group of population genetics and genome analysis will give an introduction to PRS analysis. First, we will give an introduction to GWAS and the concept of PRSs. Then, we will do an interactive tutorial of PRS analysis using the nextflow pipeline pgsc_calc. Here, we will demonstrate the calculation of PRSs from GWAS summary stats in a population and how disease specific PRSs can stratify between cases of atrial fibrillation and controls.


30min welcome and tech check

30min lecture – introduction to GWAS and PRSs (Henrike Heyne, Hasso-Plattner-Institute, University of Potsdam)

30min lecture – Clinical application of PRS (Inga Steinbrenner, University of Freiburg)

10min break

2h interactive tutorial – PRS analysis using the nextflow pipeline pgsc_calc (Nicolas Walk, H. Heyne, I. Steinbrenner, Francesca Rissom, Susanne Ibing)

calculation of PRSs from GWAS summary

using PRSs as a marker for atrial fibrillation

10min lecture – ethical implications of PRS (Henrike Heyne)

10min concluding remarks and discussion (all)

Important technical information:

Basic experience in programming (shell scripting) is recommended. We also request setting up nextflow prior to the workshop either [as shown here] or [here] (with a personal preference for the second nf-core tutorial using conda). For Windows users: installing nextflow could be more difficult, so we will provide a docker image before the tutorial.

For an optimal workshop experience please leave your mail address with us or GMDS, so we can send you updated installation instructions closer to the date.

Contact us

henrike.heyne [at] hpi.de