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Updated: Jan 10, 2026

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BRAIN-MAGNET:用于解释非编码变体的功能基因组图谱

Ruizhi Deng1, Elena Perenthaler1, Anita Nikoncuk1

  • 1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.

Cell
|November 20, 2025
PubMed
概括

No abstract available in PubMed .

关键词:
基因组学英格兰10万个基因组项目RAB7A 其他人工智能诊断系统增强剂基因调节大规模并行报告测试神经发育疾病神经遗传学非编码基因组全基因组测序

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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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