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Updated: Jul 6, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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在使用MAGICpipeline的全外因组测序研究中检测罕见和常见的遗传关联的协议

Jian Yuan1, Kai Li2, Hui Peng1

  • 1National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China; National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.

STAR protocols
|January 4, 2024
PubMed
概括

使用MAGICpipeline的全外体测序 (WES) 分析识别了基因与疾病的联系. 该协议详细介绍了罕见变异关联,病原性注释和网络分析,以发现与疾病相关的基因.

关键词:
生物信息学是一种生物信息学.遗传学 是一个遗传学.系统生物学 系统生物学

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相关概念视频

Genome-wide Association Studies-GWAS01:11

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