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Updated: Jan 17, 2026

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对潜在拼接变异的常规RNA分析有助于基因组诊断,并揭示了in silico预测工具的局限性

Mark Drost1, Jordy Dekker1, Federico Ferraro1

  • 1Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.

HGG advances
|September 24, 2025
PubMed
概括

患者细胞的常规RNA分析有效地解释了影响mRNA前拼接的遗传变异,重新分类了许多意义不明的变异 (VUS),并提高了遗传疾病的诊断准确性.

关键词:
通过RNA拼接进行RNA拼接.诊断 诊断 诊断 诊断 诊断遗传疾病 遗传疾病拼接预测算法的算法

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