Kohei Tomizuka

Nov 1, 2024 | biorxiv.org | Masaru Koido |Akari Suzuki |Kohei Tomizuka |Soichiro Yoshino

AbstractOpen chromatin regions (OCRs) provide genome-wide DNA elements in a cell-type-specific manner at high resolution but do not always mark active regulatory regions, hampering pinpointing causal functional variants in genetic association studies. Here, we developed a new scoring system, CAMBUS (Chromatin Accessibility Mutation Burden Score), to find active and constraint OCRs via machine-learning predictions of OCRs from surrounding DNA sequences.