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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular neurobiology - 1 Aug 2021

Zhang Yi, Wang Tao, Wang Yan, Xia Kun, Li Jinchen, Sun Zhongsheng

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a group of diseases characterized by high heterogeneity and frequently co-occurring symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1102 patients with NDDs and validated 1271 potential functional variants, including 108 de novo variants (DNVs) in 78 autosomal genes and seven inherited hemizygous variants in...

Topics

China
Female
Gene Regulatory Networks
Gene Targeting
Genetic Association Studies
Genetic Variation
Humans
Male
Neurodevelopmental Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33860439
DOI: 10.1007/s12035-021-02377-y
PMCID: PMC8280036

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