Basic Tutorial for Polygenic Risk Score

介绍

This tutorial provides a step-by-step guide to performing basic polygenic risk score (PRS) analyses and accompanies our PRS Guide paper. The aim of this tutorial is to provide a simple introduction of PRS analyses to those new to PRS, while equipping existing users with a better understanding of the processes and implementation “underneath the hood” of popular PRS software.

The tutorial is separated into four main sections and reflects the structure of our guide paper: the first two sections on QC correspond to Section 2 of the paper and constitute a ‘QC checklist’ for PRS analyses, the third section on calculating PRS (here with examples using PLINK, PRSice-2, LDpred-2 and lassosum) corresponds to Section 3 of the paper, while the fourth section, which provides some examples of visualising PRS results, accompanies Section 4 of the paper.

Quality Control (QC) of Base Data
Quality Control (QC) of Target Data
Calculating and analysing PRS
Visualising PRS Results