Cytogenetics and Cytogenomics in Clinical Diagnostics: Innovations and Applications
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Cytogenomics".
Deadline for manuscript submissions: 25 August 2025 | Viewed by 160
Special Issue Editor
Special Issue Information
Dear Colleagues,
Chromosomes serve as both structural and regulatory units of the human genome. Clinical cytogenetics and cytogenomics enable the diagnosis of constitutional and oncological chromosomal abnormalities. While conventional karyotyping provides genome-wide analysis at low resolution, the integration of fluorescence in situ hybridization (FISH), microarray analysis, and optical genome mapping (OGM) since the 1990s has significantly enhanced diagnostic precision and sensitivity.
Despite advances in genomic sequencing technologies that detect nucleotide-level variants, our understanding of chromosomal alterations at microscopic and submicroscopic levels in human disease remains incomplete. Genome function and phenotypic manifestation are regulated across multiple layers of resolution and nuclear organization, with topological genome features coordinating higher-order gene activity. Conventional karyotyping, FISH, and emerging cytogenomic approaches remain essential for comprehensive genomic assessment, allowing for the detection of not only numerical, structural, and sub-chromosomal abnormalities but also the multiple regulatory layers that govern the genome. Looking ahead, the incorporation of artificial intelligence (AI) holds promise for overcoming the limitations of traditional cytogenetic analysis and is expected to play a transformative role across all genomic medicine subspecialties, including cytogenomics.
This Special Issue invites submissions on chromosomal abnormalities and submicroscopic genomic variations in developmental disorders, neuropsychiatric diseases, and neoplastic conditions. We welcome research on mechanistic insights, genotype–phenotype correlations, technological innovations, and clinical applications. Studies on three-dimensional chromosome organization in human diseases and AI-driven advancements in cytogenomics are particularly encouraged. As the field continues to evolve, we seek perspectives on emerging challenges, future directions, and the transformative potential of next-generation cytogenomic technologies.
Dr. Jinglan Liu
Guest Editor
Manuscript Submission Information
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Keywords
- karyotyping
- cytogenomics
- chromosome territory (CT)
- nuclear architecture
- clinical oncology
- germline
- development
- neuropsychiatry
- artificial intelligence (AI)
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