Chapter 2 Polygenic Risk Score (PRS) Mix Analysis in AnVIL

Led by: Matthew Lebo, PhD and Shruti Parpattedar

2.1 About

This track, run by the AnVIL Clinical Resource team, will consist of both an overview and a hands-on workshop to provide individuals with an understanding of polygenic scores and how to run and evaluate them in AnVIL. First, we will level-set by providing an overview of the current state of polygenic analysis, with a focus on polygenic risk scores (PRS) and PRS Mix scores. Next, we will jointly work with participants to run PRS analyses in AnVIL using the WDL framework. These tasks will cover various components of the PRS mix workflow, with the goal of enabling users to import, set up and run the WDL on their own. We will also engage with participants to get feedback and create user-friendly documents to enable processing of this workflow once published to the broader community.

Participants are not required to supply their own data, as publicly available data and an AnVIL workspace will be provided as part of the CoFest track. Users who are interested in running the analyses on their own data are welcome, but should have their own workspace in which to run the analyses.