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Updated: May 16, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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在初级先天性玻璃眼患者中使用整体外基因组测序来识别致病变体

Shahzad Ahmad1, Muhammad Saleem Gandapur2, Musharraf Jelani3

  • 1Department of Molecular Biology & Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Phase V, Hayatabad, Peshawar, 25000, Khyber Pakhtunkhwa, Pakistan.

Scientific reports
|April 1, 2025
PubMed
概括

在普什图族家庭中对初级先天性玻璃眼 (PCG) 的遗传分析发现了新的CYP1B1突变. 这项研究提高了对PCG的理解.

关键词:
血缘亲属 血缘亲属 血缘亲属 血缘亲属外体序列排序是如何进行的致病性 致病性 致病性主要的先天性玻璃眼.变种 变种 变种 变种

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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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