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<p>Despite advances in next-generation sequencing and optical genome mapping, conventional cytogenetics, particularly karyotyping, remain indispensable in modern medical genomics. It continues to provide critical diagnostic value in constitutional and hematological disorders, offering cost-effective detection of chromosomal abnormalities and complementing molecular tools, especially in complex cases and resource-limited settings.</p>

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Cytogenetics in the genomics era: why karyotyping still matters

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月14日

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  • Alain Chebly

摘要

Despite advances in next-generation sequencing and optical genome mapping, conventional cytogenetics, particularly karyotyping, remain indispensable in modern medical genomics. It continues to provide critical diagnostic value in constitutional and hematological disorders, offering cost-effective detection of chromosomal abnormalities and complementing molecular tools, especially in complex cases and resource-limited settings.