Jesper Madsen
jespergrud.bsky.social
Jesper Madsen
@jespergrud.bsky.social
Associate Professor @ University of Southern Denmark. Computational Biologist working with ML to understand transcriptional and genetic regulation of metabolic disease.
Shoutout to funders without whom this work would not have been possible @novo-nordisk.bsky.social @dg.dk
October 7, 2025 at 12:40 PM
You can find many more details in the preprint biorxiv.org/content/10.1.... You can also try out DeepDive on your own data. You can find a tutorial on how to get started here: deepdive-tutorial.readthedocs.io/en/latest/. Reach out if you have questions or something does not work. 5/6
Disentangling covariate effects on single cell-resolved epigenomes with DeepDive
Understanding the effects of individual biological factors from single cell-resolved epigenomic data is hindered by multicollinearity, particularly in human cohorts. We introduce DeepDive, a novel dee...
biorxiv.org
October 7, 2025 at 12:40 PM
Finally, we apply DeepDive to islets (Sander lab), and dive into beta-cell subtypes linked to T2D. We id TFs differentially active between subtypes and after virtually perturbing disease status. TFs with counterfactual support more often have genetic and functional support! 4/6
October 7, 2025 at 12:40 PM
Next, we turn counter-factual prediction and attempt to use the disentangled representations to predict the epigenome in an unseen covariate combination by virtually perturbing the observed covariates in real data. DeepDive outperforms baselines and achieves high accuracy. 3/6
October 7, 2025 at 12:40 PM
To evaluate disentanglement, we analyzed collinear covariates in both simulated and real datasets. We found that regular statistical methods fail, as signal from one covariate leaks into another, but DeepDive accurately resolves which signal belongs to which covariate. 2/6
October 7, 2025 at 12:40 PM