A multidimensional perspective on immune-mediated diseases: using genetic feature engineering to study shared risk factors in a reduced dimension space

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• Guillermo Reales (Dept. of Medicine, University of Cambridge)
• Wednesday 03 November 2021, 14:00-15:00
• CMS, Meeting Room 15.

If you have a question about this talk, please contact Samantha Noel.

Our intention is to deliver all Seminars in person, we will follow University Covid Guidance on this. Seminars are aimed mainly at MPhil CompBio students, but are open to anyone who wishes to attend by pre-booking with the Administrator.

Genome-wide association studies (GWAS) look for associations between millions of genomic variants and traits such as disease or treatment response, and have revealed shared genetic architectures across disease collections, such as the immune-mediated diseases (IMD) which include type 1 diabetes, asthma, or rheumatoid arthritis. However, integrative approaches to describe these architectures beyond pairwise comparison have been limited by the dimension of these statistics, as well as different sharing patterns across diseases, rendering generalisations about inter-disease relationships difficult. Here, I describe a new method based on principal component analysis and Bayesian shrinkage to engineer genetic risk components from GWAS summary statistics for a set of related traits. This enables us to detect significant associations in the limited sample numbers available from less frequent diseases, which would otherwise have insufficient powered for genetic study. I also show that using potential mediating traits, such as blood cell counts in the engineering can help identify more interpretable components, and thus help understand the genetic architecture of IMD and infectious diseases, among others.

This talk is part of the Computational and Systems Biology Seminar Series 2023 - 24 series.

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