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Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

Molecular psychiatry - 1 Nov 2022

Kim Il Bin, Lee Taeyeop, Lee Junehawk, Kim Jonghun, Lee Suho, Koh In Gyeong, Kim Jae Hyun, An Joon-Yong, Lee Hyunseong, Kim Woo Kyeong, Ju Young Seok, Cho Yongseong, Yu Seok Jong, Kim Soon Ae, Oh Miae, Han Dong Wook, Kim Eunjoon, Choi Jung Kyoon, Yoo Hee Jeong, Lee Jeong Ho

Abstract excerpt

Three-dimensional chromatin interactions regulate gene expressions. The significance of de novo mutations (DNMs) in chromatin interactions remains poorly understood for autism spectrum disorder (ASD). We generated 813 whole-genome sequences from 242 Korean simplex families to detect DNMs, and identified target genes which were putatively affected by non-coding DNMs in chromatin interactions. Non-coding DNMs in...

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PMID: 35840799
DOI: 10.1038/s41380-022-01697-2

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