/Polygenic_Risk_Scores

This is a landing page for the Polygenic Risk Scores Course Developed and Delivered by Wellcome Connecting Science

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Polygenic Risk Scores, Uganda, Africa

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Summary

The boost in collections of African genomic datasets provides opportunities for further in-depth understanding of the causes of human diseases. As African genomic data from genome-wide analytical studies continues to grow, it is imperative that African scientists are empowered with skills to analyse these data using the latest tools and approaches for advancing research and genomics applications in Africa and globally.

This short course will equip scientists based in Africa with tools and approaches for polygenic risk scores (PRS) analysis. The course will cover both applied and theoretical topics in PRS research, delivered across a variety of lectures, tutorials, computational practicals and special guest seminars from experts in the field. By the end of the workshop, attendees should have an in-depth theoretical understanding and practical skills in PRS analysis of global populations.

The course will begin with an overview of genome-wide association studies, an introduction to PRS analysis, advanced topics in PRS (e.g., pathway-based PRS, PRS Environment interactions, PRS to identify rare variants). This will be followed by the key topic of the ‘PRS Portability Problem’ and how to address it using PRS methods developed for application to diverse and admixed ancestry samples. Finally, attendees will devise, perform and present their own research project as part of a group on a topic relevant to the content of the course, with feedback from the workshop team.

Target Audience

Students and scientists based in Africa who are interested in the theory and/or application of polygenic risk scores, important for those undertaking research in: Bioinformatics, Genetic Epidemiology, Population Genetics, Statistical Genetics, Clinical Genetics, and Quantitative Genetics.

Programme

The course will run over 5 days and will include lectures, tutorials, computational practicals and special guest seminars from experts in the field. There will be multiple opportunities to meet the training team on 1:1 setting, and to interact with other attendees and the workshop team throughout the week, helping to foster a supportive, collegiate and interactive environment to maximise learning for all.

Topics overview

  • Overview of Genome-Wide Association Study (GWAS): GWAS basics and GWAS for PRS
  • Introduction to PRS: calculating PRS, running PRS software, interpreting PRS results
  • Advanced PRS topics: pathway PRS, PRS to detect rare variants
  • PRS in diverse ancestries: the PRS Portability Problem, PRS methods for addressing portability problems, PRS for diverse and admixed population samples
  • PRS mini research project: Group project devised, performed and presented on a topic related to content from the week, performed in groups of 4-5 attendees.

Learning outcomes

At the end of the course, participants will be able to:

  • Discuss the application of GWAS and PRS methods to understand disease aetiology.
  • Explain the application of PRS in determination of complex disease genetic risk
  • Perform essential steps for PRS analysis using standard approaches and tools.
  • Apply relevant tools and software to analyse complex global (diverse and admixed) population genomics datasets.
  • Evaluate and interpret results generated from PRS analyses.
  • Customise visualisation of results from PRS analyses.

Course Runs

Course Date Course Title Location Citation DOI
9–14 June 2024 Polygenic Risk Scores Africa 2024 Makerere University, Kampala, Uganda DOI
2–7 July 2023 Polygenic Risk Scores Africa 2023 Makerere University, Kampala, Uganda DOI

Citing and Re-using Course Material

The course data are free to reuse and adapt with appropriate attribution. All course data in these repositories are licensed under the Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0). Creative Commons Licence

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