Article

Constrained Open Chromatin Regions Reveal Functional Elements Shaping Human Traits

2024-11-01

Abstract excerpt

Open chromatin regions (OCRs) define cell-type-specific regulatory elements across the genome, yet their functional significance varies, making it challenging to pinpoint biologically essential regions. Here, we introduce CAMBUS (Chromatin Accessibility Mutation Burden Score), a machine-learning framework that identifies active and evolutionarily constrained OCRs by leveraging surrounding DNA sequences. Applying C...

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Literature Corpus work: eaef7138-3c62-5cfa-b30b-d7810af4cf39
DOI: 10.1101/2024.10.31.621195

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