Mario Capobianco
Automatic detection of fitness shifts in pathogen phylogenies using contrastive learning.
Rel. Roberta Bardini, Stefano Di Carlo, Alessandro Savino, Alexander Zarebski, Gabriele Marino. Politecnico di Torino, Corso di laurea magistrale in Data Science And Engineering, 2025
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Abstract
The continual emergence and extinction of pathogen lineages, driven by factors including immune escape, environmental changes, or differences in transmissibility, poses major challenges for public health. Detecting lineages with an increased fitness is critical for understanding epidemiological shifts and guiding targeted interventions. Existing approaches for detecting fitness changes among lineages, such as PhyloWave, extract summary statistics from trees and use them to identify lineages with different evolutionary dynamics. However, PhyloWave depends on substantial domain knowledge and thresholds that require manual fine-tuning—often relying on expert judgment or arbitrary choices—which limits its scalability and robustness across different pathogens. To overcome the limitations of existing approaches, we integrate contrastive representation learning with phylogenetic modeling to implement a generalization of the multi-type birthdeath (MTBD) model in which mutation events alter lineage-specific transmission rates.
These simulations generate training and testing data that capture a wide range of fitness scenarios
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