Cytogenetics and Cytogenomics in Clinical Diagnostics: Innovations and Applications—2nd Edition
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Cytogenomics".
Deadline for manuscript submissions: 25 September 2026 | Viewed by 199
Special Issue Editor
Interests: conventional cytogenetics; cytogenomics; epigenetics; epigenomics; laboratory genetics and genomics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Chromosomes lie at the foundation of genome structure and function. Clinical cytogenetics and cytogenomics have long been central to the diagnosis of constitutional and oncological chromosomal abnormalities. From conventional karyotyping, which enables genome-wide assessment at low resolution, to the progressive integration of fluorescence in situ hybridization (FISH), microarray analysis, and optical genome mapping (OGM) since the 1990s, the field has continually evolved toward higher resolution and greater diagnostic sensitivity. More recently, long-read sequencing has emerged as a promising cytogenomic platform, capable of resolving nucleotide-level variations while simultaneously characterizing large-scale genomic rearrangements traditionally assessed by conventional cytogenetics and FISH.
Despite remarkable advances in molecular genomic technologies, our understanding of the chromosomal alterations that underlie human disease remains incomplete. The phenotypic manifestation of the human genome is governed across multiple layers of resolution and nuclear organization, with topological features coordinating long-range regulation and higher-order gene activity. Chromosomal alterations not only contribute to disease pathogenesis but have also been a major driver of human evolution. Conventional karyotyping, FISH, and various cytogenomic approaches remain fundamental to cutting-edge genomic analyses. Their integrated application enables a comprehensive examination of numerical and structural alterations alongside the regulatory architecture of the genome. Moving forward, the incorporation of artificial intelligence (AI) holds promise for accelerating discovery and clinical translation by overcoming analytical limitations and transforming workflows across genomic medicine, including cytogenomics.
Following the strong scientific impact and enthusiastic response to Volume I of this Special Issue, I am pleased to announce the launch of Volume II in February 2026. This second volume continues to serve as a dedicated forum for studies addressing chromosomal abnormalities in developmental disorders, neuropsychiatric diseases, and neoplastic conditions. As the field continues to evolve, Volume II will specifically highlights the following areas: (1) optical genome mapping and long-read sequencing technologies; (2) three- and four-dimensional genome architecture and topological regulation; and (3) applications of AI in clinical cytogenomic analysis and diagnostics. Together, these contributions will help shape the next era of cytogenetics and cytogenomics, fostering innovation and advancing the field’s expanding role in precision medicine.
Dr. Jinglan Liu
Guest Editor
Manuscript Submission Information
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Keywords
- karyotyping
- cytogenomics
- chromosome territory (CT)
- nuclear architecture
- clinical oncology
- germline
- development
- neuropsychiatric
- artificial intelligence (AI)
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