We (Taibo Li) then trained a Bayesian model to predict variants with different functional effects by sex. We identified 753 variants with a predicted sex bias across 464 genes.
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Sex differences are often overstated, so I want to be clear. Males and females are more similar than they are different. We identified just 0.04% of total rare variants to have a difference by sex.
We show these sex-biased variants are enriched for being in pharmacogenes with adverse-drug reactions, including those with known sex-biased adverse drug reactions. To my knowledge no study had previously looked at pharmacogenetic implications of sex-biased rare variants.
Many thanks to my second author Taibo Li, who was wonderful to work with and even helped finish this project even after returning to the MD side of his MD-PhD. I am also grateful for the mentorship of @sbmontgom.bsky.social throughout this project.
This was the first project I started when I joined the Montgomery lab over five years ago, and I really grew up scientifically with this project. I am extra lucky that Stephen developed this project specifically with my personal scientific interests in mind.
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