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Updated: May 12, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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光学基因组映射改善了对宪法复制数增长的临床解释,并减少了它们的VUS负担

Avinash V Dharmadhikari1, Alexander L Markowitz2, Jennifer Han2

  • 1Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, CA; Department of Pathology, Keck School of Medicine of USC, Los Angeles, CA.

Genetics in medicine : official journal of the American College of Medical Genetics
|May 9, 2025
PubMed
概括

光学基因组映射 (OGM) 为复制数增长提供了关键的结构信息,改善了临床解释,与染色体微阵列 (CMA) 分析相比,显著减少了未知重要性 (VUS) 的变异.

关键词:
副本数量的增加.基因组结构 基因组结构通过光学基因组映射进行基因组映射.不确定意义的变体.

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