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Updated: Mar 14, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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基因门户:将临床,功能和结构证据整合到罕见疾病变异分类中的框架

Tobias Brünger, Ilona Krey, Suyeon Kim

    medRxiv : the preprint server for health sciences
    |March 13, 2026
    PubMed
    概括

    基因门户集中罕见疾病遗传数据,标准化变体解释. 这个框架整合了各种证据来自动分类和发现孟德尔疾病的分子机制.

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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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