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Updated: Jul 24, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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迪斯科瓦里:一个基于网络的精确医学工具,用于预测心肌病和通道病相关基因的变异性致病性

Leonie M Kurzlechner1, Sujata Kishnani1, Shawon Chowdhury1

  • 1Department of Pediatrics, Division of Pediatric Cardiology (LMK, SK, SC, SLA, MEM-M, LEP, MBR, LAP, APL), Duke University School of Medicine, Durham, NC.

Circulation. Genomic and precision medicine
|July 6, 2023
PubMed
概括

基因检测的进步增加了偶然发现的心脏病变体. 一个新的工具DiscoVari,使用信号对噪声分析来识别致病热点,改善突发心脏死亡风险的变异解释.

关键词:
道病变是一种道病变.外基因组测序是指外基因组的测序.长时间QT综合征可能性概率概率概率.综合症 综合症是什么

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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.
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