Polygenic scores (PGS) are a measurement which represents genetic predisposition for a heritable trait or phenotype by aggregating the effects of hundreds-to-millions of genetic variants into a single number. The PGS Catalog is the world’s largest FAIR (finable, accessible, interoperable, and reusable) repository of PGS along with the relevant metadata required to evaluate and reuse them. PGS have emerged as a commonly used genomic tool that have multiple research applications and potential clinical applications. 

This webinar will demonstrate how to use scoring files from the PGS Catalog (or custom files) to calculate PGS in your own samples using the PGS Catalog Calculator (pgsc_calc). The pgsc_calc software reproducibly automates PGS calculation in commonly used genotyping formats (plink, VCF) alongside capabilities for adjusting PGS in the context of genetic ancestry (necessary for proper interpretation of PGS across diverse populations). This webinar introduces the software and describes the ancestry adjustment process included in the Calculator, along with information about how to run the tool and interpret results.

Who is this course for?

This webinar is suitable for researchers, clinicians and bioinformaticians working in the field of human genomics. Experience using command line interface (CLI) applications on Linux or macOS is highly recommended but not essential.

Outcomes

By the end of the webinar you will be able to:

• Reuse polygenic scoring files published in the PGS Catalog to calculate polygenic scores on new target genomes using the pgsc_calc tool
• Explain why incorporating genetic ancestry information is important when calculating polygenic scores

DOI: 10.6019/TOL.PGS-calculator-w.2024.00001.1

This webinar took place on 04 December 2024. Please click the 'Watch video' button to view the recording.