Cytogenetics in the genomics era: why karyotyping still matters
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.
Authors
- Alain Chebly (ORCID: https://orcid.org/0000-0001-5582-2923)
Institutions
- Saint Joseph University (LB)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2026-01-14
- DOI
- https://doi.org/10.1186/s12920-025-02296-0
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00