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Updated: Jul 19, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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与患者相关的KCNMA1基因变异的结构映射

Hans J Moldenhauer, Kelly Tammen, Andrea L Meredith

    bioRxiv : the preprint server for biology
    |August 7, 2023
    PubMed
    概括

    这项研究绘制了BK通道中的KCNMA1变异,识别了功能丧失集群,并开发了一种针对神经系统疾病的改进预测工具 (KCNMA1元得分).

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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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