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◆ BMC Medical Genomics2026-01-14· Human genetics

Cytogenetics in the genomics era: why karyotyping still matters

Alain Chebly

原始摘要(英文原文)· Original abstract
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.
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Cytogenetics in the genomics era: why karyotyping still matters — 科研速览 Science Skim