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Updated: Jun 29, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Rare Event Detection Using Error-corrected DNA and RNA Sequencing

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[两名患有罕见Ael亚型的患者的遗传分析]

Bingbing He1, Suiyong Zhu, Kaizhao Huang

  • 1The Second Affiliated Hospital, Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China. ljj88879099@126.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|April 2, 2024
PubMed
概括

基因分析揭示了罕见的艾尔血小组中的多样化分子结构. 测序确定了两名患者的独特的ABO基因变异,影响了N-乙甲胺转移酶结构和潜在的酶活性.

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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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