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Cytogenetics in the genomics era: why karyotyping still matters

Year: 2026
Type: article
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.
Author: Alain Chebly
Language: English
Subfield: Genetics
Open Access status: gold
Estimated APC paid: $3,190
OpenAlex ID: W7124161631
FWCI: 18.64
Cites: 8
Cited by: 5
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