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Updated: Jun 16, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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发现隐藏的遗传变异:长期阅读的测序揭示了对结核性硬化综合体的新见解

Jing Duan1, Shirang Pan2, Yuanzhen Ye1

  • 1Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.

Frontiers in cell and developmental biology
|August 15, 2024
PubMed
概括

长读测序在没有发现突变的结核性硬化患者中发现了新的遗传变异. 这项研究揭示了马赛克主义和复杂的重排的更高的流行率,改善了这种罕见的遗传疾病的诊断产量.

关键词:
元素Alu 是一个元素.这就是SINE-VNTR-Alus.马赛克复杂的结构变体马赛克的各种变体通过光学基因组映射进行基因组映射.结构变化的结构变化.

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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...
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