Full text 2026

Cytogenetics in the genomics era: why karyotyping still matters

Chebly A.

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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.

Keywords

Karyotype Cytogenetics Genomics chromosomes Ngs Cytogenomics Ogm