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Article

Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder.

Journal of genetics and genomics = Yi chuan xue bao - 1 Oct 2025

Chen Congcong, Guo Songwei, Shi Yanan, Gu Xinyu, Xu Ziye, Chen Yingjia, Gu Yayun, Qin Na, Jiang Yue, Dai Juncheng, He Yuanlin, Han Xiao, Liu Yan, Hu Zhibin, Ke Xiaoyan, Wang Cheng

Abstract excerpt

Autism spectrum disorder (ASD) is a neurodevelopmental disorder where de novo mutations play a significant role. Although coding mutations in ASD have been extensively characterized, the impact of non-coding de novo mutations (ncDNMs) remains less understood. Here, we integrate cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter...

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PMID: 40738258
DOI: 10.1016/j.jgg.2025.07.008

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