Qijin Yin

1 month ago | nature.com | Xuejian Cui |Qijin Yin |Zijing Gao |Zhen Li |Xiaoyang Chen |Shengquan Chen | +4 more

Cis-regulatory elements (CREs), including enhancers, silencers, promoters and insulators, play pivotal roles in orchestrating gene regulatory mechanisms that drive complex biological traits. However, current approaches for CRE identification are predominantly sequence-based and typically focus on individual CRE types, limiting insights into their cell-type-specific functions and regulatory dynamics. Here, we present CREATE, a multimodal deep learning framework based on Vector Quantized Variational AutoEncoder, tailored for comprehensive CRE identification and characterization. CREATE integrates genomic sequences, chromatin accessibility, and chromatin interaction data to generate discrete CRE embeddings, enabling accurate multi-class classification and robust characterization of CREs. CREATE excels in identifying cell-type-specific CREs, and provides quantitative and interpretable insights into CRE-specific features, uncovering the underlying regulatory codes. By facilitating large-scale prediction of CREs in specific cell types, CREATE enhances the recognition of disease- or phenotype-associated biological variabilities of CREs, thus advancing our understanding of gene regulatory landscapes and their roles in health and disease. Cui et al. present CREATE, a platform for the identification of multi-class cell-type-specific CREs by integrating multi-omics data. CREATE interpretably extracts discrete CRE embeddings, quantitatively unveils CRE-specific features, and effectively enables large scale prediction of CREs.

Oct 3, 2024 | biorxiv.org | Xuejian Cui |Qijin Yin |Zijing Gao |Zhen Li

AbstractIdentifying cis-regulatory elements (CREs) within non-coding genomic regions-such as enhancers, silencers, promoters, and insulators-is pivotal for elucidating the intricate gene regulatory mechanisms underlying complex biological traits. The current prevalent sequence-based methods often focus on singular CRE types, limiting insights into cell-type-specific biological implications.