My name's Madeleine and I'm a Bioinformatician and Data Scientist based out of Hamilton. In June 2026 I graduated from my PhD at the University of Toronto where I studied how different areas of the genome are likely to mutate more than others, and what genetic & epigenetic factors predicts these effects.
What factors predict mutation in healthy human tissues, and how does this vary between tissues?
- Regression models predict mutations within 2% MAE in all tissues studied (skin, liver, blood & germline)
- Triplets emerge as the strongest predictor, demonstrating the importance of local sequence effects.
- Epigenetic predictors alone (gene expression, expression, recombination etc.) can predict mutability, but with 40% decreased accuracy.
How do mutational hotspots impact human genome evolution?
- In simulations, triplets alone we could recreate the composition of the human genome within 9%.
- Purifying selection in genes resulted in 40% higher mutability, counterintuitively suggesting that the genomes most important regions may be most at risk for damage.
How does mutability relate to diversity across species of land plants?
- Collaboration with the Yeaman lab at the University of Calgary.
- Responsible for modelling & predicting mutability in in 20 plant species.
Can we adapt a rare mutation detection technique to study early variant emergence in viruses?
- Adapted an ultra-high fidelity Duplex seq method to an algal virus to detect mutations that occur in as little as a single molecule of DNA.
- Tracked and categorized mutant variants during an evolutionary experiment, as the virus adapted to overcome host defenses.
- Collaboration with the Becks lab at the University of Konstanz.