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Genetics 232 (1) - [2026-01-07; online 2025-04-08]
We introduce a framework for using contrastive learning for dimensionality reduction on genetic datasets to create principal component analysis (PCA)-like population visualizations. Contrastive learning is a self-supervised deep learning method that uses similarities between samples to train the neural network to discriminate between samples. Many of the advances in these types of models have been made for computer vision, but some common methodology does not translate well from image to genetic data. We define a loss function that outperforms loss functions commonly used in contrastive learning, and a data augmentation scheme tailored specifically towards SNP genotype datasets. We compare the performance of our method to PCA and contemporary nonlinear methods with respect to how well they preserve local and global structure, and how well they generalize to new data. Our method displays good preservation of global structure and has improved generalization properties over t-distributed stochastic neighbor embedding, Uniform Manifold Approximation and Projection, and popvae, while preserving relative distances between individuals to a high extent. A strength of the deep learning framework is the possibility of projecting new samples and fine-tuning to new datasets using a pretrained model without access to the original training data, and the ability to incorporate more domain-specific information in the model. We show examples of population classification on two datasets of dog and human genotypes.
PubMed 40194517
DOI 10.1093/genetics/iyaf068
Crossref 10.1093/genetics/iyaf068
pmc: PMC12774828
pii: 8107861