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Updated: Jul 5, 2025

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对于罕见疾病诊断的生殖系变异发现的生物信息学:当前的方法和剩余的挑战

Yury A Barbitoff^1,2, Mikhail O Ushakov¹, Tatyana E Lazareva¹

¹Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia.

Briefings in bioinformatics

|January 25, 2024

概括

下一代测序 (NGS) 改善了罕见疾病的诊断,但变异调用和解释方面的挑战仍然存在. 解决生物信息学障碍是提高诊断率和患者结果的关键.

科学领域:

基因组学就是基因组学.
医学遗传学医学遗传学
生物信息学是一种生物信息学.

背景情况:

下一代测序 (NGS) 对于罕见疾病诊断至关重要.
尽管经常使用全外体/基因组测序,但诊断率仍然低于最佳水平.

结论:

持续存在的生物信息学挑战限制了下一代测序的诊断效率.
未来的研究应该专注于改善罕见疾病的变异注释和解释.

关键词:

国家储备系统 (NGS)在WES WES中,您可以使用WES.参考基因组是指基因组中的基因组.变种注释变种注释变量调用变量调用

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Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...