Cytogenetics in the genomics era: why karyotyping still matters

BMC Medical Genomics 2026 Open access

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Authors: Alain Chebly
DOI: 10.1186/s12920-025-02296-0
Cited by: 3
References: 8

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.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Acute Myeloid Leukemia Research

Publication details

Journal / source
BMC Medical Genomics
Publisher
Springer Science and Business Media LLC
Volume
19
Issue
1
Pages
10–10
Publication date
14 January 2026
Language
EN