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Article

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

EBioMedicine - 1 Jan 2024

Li Kuokuo, Xiao Jifang, Ling Zhengbao, Luo Tengfei, Xiong Jingyu, Chen Qian, Dong Lijie, Wang Yijing, Wang Xiaomeng, Jiang Zhaowei, Xia Lu, Yu Zhen, Hua Rong, Guo Rui, Tang Dongdong, Lv Mingrong, Lian Aojie, Li Bin, Zhao GuiHu, He Xiaojin, Xia Kun, Cao Yunxia, Li Jinchen

Abstract excerpt

BACKGROUND: Genomic variants outside of the canonical splicing site (±2) may generate abnormal mRNA splicing, which are defined as non-canonical splicing variants (NCSVs). However, the clinical interpretation of NCSVs in neurodevelopmental disorders (NDDs) is largely unknown. METHODS: We investigated the contribution of NCSVs to NDDs from 345,787 de novo variants (DNVs) in 47,574 patients with NDDs. We performed...

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Identifiers

PMID: 38113761
DOI: 10.1016/j.ebiom.2023.104928
PMCID: PMC10767160

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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