GeneticsbioRxivPreprint
Sequence sensitivity of open chromatin reveals constrained regulatory elements underlying human traits
Kohei Tomizuka, Masaru Koido, Akari Suzuki…·Chikashi C. Terao
The paper introduces CAMBUS, a machine-learning framework to identify functionally important open chromatin regions by measuring sequence sensitivity, and finds these regions are enriched for evolutionary constraint and disease-related variants.