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Updated: Jan 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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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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相关的CHD2误解变体和优化策略用于遗传诊断:对算法进行比较分析

Yu-Jie Gu1,2, Peng-Yu Wang2, Qing-Qing Fu1

  • 1Department of Neurology, Ganzhou People's Hospital, Ganzhou, China.

Frontiers in neurology
|December 12, 2025
PubMed
概括

这项研究评估了in silico工具,用于预测发育性和性脑病变 (DEE) 中CHD2误解变异的致病性. MutPred2和AlphaMissense表现出卓越的性能,使他们适合在CHD2相关的DEE中临床使用.

关键词:
阿尔法Missense的意思是错误的CHD2 CHD2 的意思是这就是 MutPred2 的原因.发育性和性脑病变.在 silico 工具中.错误的意义的变体优化遗传诊断的优化 遗传诊断的优化

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

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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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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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