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Article

Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.

Science advances - 19 Jun 2026

Xia Lu, Guo Hailiang, Liu Ruiting, Ren Xue, Han Shaohuai, Huang Xu, Peng Ying, Zhu Yan, Huang Yuanfeng, Jiang Zhaowei, Zhu Tengfei, Luo Tengfei, Wang Zhikun, Zhou Xun, Li Xiaobo, Zhu Yanping, Bai Ting, Tian Qi, Hu Zhiqing, Zhou Miaojin, Jiang Qian, Shen Yidong, Ou Jianjun, Zhu Yixiao, Zhou Qiao, Pan Qian, Wang Tianyun, Guo Hui, Tang Beisha, Hu Zhengmao, Li Jinchen, Xia Kun

Abstract excerpt

Epigenetic dysregulation plays an essential role in autism spectrum disorder (ASD), but the parent-of-origin effects (POEs) of DNA methylation remain unknown. Here, we applied PacBio HiFi sequencing with haplotype-phased methylation profiling in 124 individuals (31 ASD quartets) to systematically dissect POE-dependent methylation. Comparative analysis of phased methylomes between probands and unaffected siblings...

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Identifiers

PMID: 42308296
DOI: 10.1126/sciadv.aee4069
PMCID: PMC13274601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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