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Updated: Jun 4, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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在衰退性智力障碍中改善诊断收益率,利用系统的整体exome测序数据再分析

Zohreh Fattahi1, Ebrahim Shokouhian1, Fatemeh Peymani1

  • 1Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Clinical genetics
|January 3, 2025
PubMed
概括

用更新的生物信息学工具重新分析整个外体序列 (WES) 数据,改善了伊朗家庭智力障碍 (ID) 的诊断. 这种方法确定了新的候选基因,并提高了诊断产量,突出了WES再分析的潜力.

关键词:
智力障碍 智力障碍是一种智力障碍.新奇的基因 新奇的基因重新分析重新分析同性 (RoH) 的运行.整体外基因组测序的测序

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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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