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Updated: Jul 16, 2025

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在两名具有新型SET突变的非相关患者中进行全外体序列测序和转录组分析

Xin Pan1, Sihan Liu2, Xiaoshu Feng2

  • 1Department of Gynecology and Obstetrics, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Journal of human genetics
|September 22, 2023
PubMed
概括

在两名中度智力障碍 (ID) 的中国患者身上发现了SET基因的新突变. 这项研究扩展了已知的ID遗传原因,并强调了对SET基因查的需要.

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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.
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