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Updated: May 28, 2025

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光学基因组测绘的实用性用于精确检测和精细测绘难以捉摸的罕见疾病中的结构变异

Carmen Orellana1,2, Monica Rosello1,2, Amparo Sanchis3

  • 1Genetics Unit, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.

International journal of molecular sciences
|February 13, 2025
PubMed
概括

光学基因组映射 (OGM) 有效地识别了标准遗传检测中错过的复杂结构变异. 这种先进的技术有助于诊断具有未知的遗传原因的罕见疾病,改善患者管理.

关键词:
在 BCL11A 中.这是一个很好的机会,IHH IHHHH在平衡的转移转移中.出生形 遗传形 出生形 遗传形增强者 促进者 互动.通过光学基因组映射进行基因组映射.结构变体 结构变体

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