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.

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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
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article

Cytogenetics in the genomics era: why karyotyping still matters

Alain Chebly
BMC Medical Genomics
Genomic variations and chromosomal abnormalities
article

Cytogenetics in the genomics era: why karyotyping still matters

Alain Chebly
article en

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.

BMC Medical GenomicsVol. 19(1)
Saint Joseph University (LB)
Openalex Percentile: Top 89%
Genomic variations and chromosomal abnormalities
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Cytogenetics in the genomics era: why karyotyping still matters — Alain Chebly · BMC Medical Genomics (2026) | TGRS Research Map | TGRS