Gene regulation is inherently multiscale, but scale-adaptive machine learning methods that fully exploit this property in single-nucleus accessibility data are still lacking. Here, we develop ChromatinHD, a pair of scale-adaptive models that uses the raw accessibility data, without peak-calling or windows, to link regions to gene expression and determine differentially accessible chromatin. We show how ChromatinHD consistently outperforms existing peak and window-based approaches and find that this is due to a large number of uniquely captured, functional accessibility changes within and outside of putative cis-regulatory regions. Furthermore, ChromatinHD can delineate collaborating regulatory regions, including their preferential genomic conformations, that drive gene expression. Finally, our models also use changes in ATAC-seq fragment lengths to identify dense binding of transcription factors, a feature not captured by footprinting methods. Altogether, ChromatinHD, available at https://chromatinhd.org, is a suite of computational tools that enables a data-driven understanding of chromatin accessibility at various scales and how it relates to gene expression.
Bart Deplancke, Vincent Roland Julien Gardeux, Guido Van Mierlo, Wouter Jozef L Saelens, Olga Pushkarev, Judith Franziska Kribelbauer
Jacques Fellay, Didier Trono, Priscilla Turelli, Christian Axel Wandall Thorball, Julien Léonard Duc, Sandra Eloise Kjeldsen, Evaristo Jose Planet Letschert, Alexandre Coudray, Michaël Imbeault, Cyril David Son-Tuyên Pulver, Romain Forey, Jonas Caspar De Tribolet-Hardy