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Updated: Jul 24, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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神经CNV评分:一种特定于组织的框架,以优先考虑神经发育障碍中 CNVs 的致病性

Xuanshi Liu1,2,3,4, Wenjian Xu1,2,3,4, Fei Leng1,2,3,4

  • 1Beijing Children's Hospital, Capital Medical University, Beijing, China.

BMJ paediatrics open
|July 5, 2023
PubMed
概括

一个名为neuroCNVscore的新工具准确地优先考虑与神经发育障碍 (NDD) 相关的副本数变异 (CNV). 这有助于推进基因研究和临床查NDD.

关键词:
复制号码的变种是复制号码的变种.基因表达 基因表达 基因表达神经发育障碍 神经发育障碍致病性 致病性 致病性组织特异性 组织特异性

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Classification of Neurotransmitters01:30

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Neurotransmitters play a crucial role in the communication between neurons in the autonomic nervous system. Neurons in the autonomic nervous system can be cholinergic or adrenergic depending on the neurotransmitters synthesized. Cholinergic neurons use acetylcholine as their primary neurotransmitter. This includes all the preganglionic fibers of the sympathetic and pre- and postganglionic fibers of the parasympathetic nervous systems. In addition, neurons of the somatic nervous system also use...
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Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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