Sequence sensitivity of open chromatin reveals constrained regulatory elements underlying human traits
Kohei Tomizuka, Masaru Koido, Akari Suzuki, Soichiro Yoshino, Nao Tanaka, Yuki Ishikawa, Xiaoxi Liu, Satoshi Koyama, Kazuyoshi Ishigaki, Yasuhiro Murakawa, Kazuhiko Yamamoto, 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.
bioRxiv · Oct 31, 2024 · PreprintGenetics