Cytogenetics/Cytogenomics and Functional Genomics in Human Health and Disease
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Cytogenomics".
Deadline for manuscript submissions: 20 January 2026 | Viewed by 44
Special Issue Editor
Interests: cytogenetics; cytogenomics; fluorescence in situ hybridization (FISH); microarrays; next-generation sequencing (NGS); optical genome mapping (OGM); genomic proximity mapping (GPM); medical genetics
Special Issue Information
Dear Colleagues,
Over the last several decades, techniques in cytogenetics and cytogenomics, including karyotyping, FISH, chromosomal microarrays, and optical genome mapping, have yielded significant results for clinical phenotypes in constitutional and cancer genetics, including intellectual disability, autism spectrum disorders, dysmorphic features, and hematological and solid-tissue neoplasia.
However, some of these assays have given results that have had unclear significance because the detected abnormalities were often in intergenic regions of the genome. Because these abnormalities are within the “dark matter” of the genome, their clinical significance has been a matter of speculation. Functional genomics is poised to more fully explore the clinical significance of such abnormalities, whether the abnormalities disrupt topologically associating domains (TADs), delete regulatory regions, etc.
This Special Issue, dedicated to advances in functional genomics within the field of clinical cytogenetics/cytogenomics, will address these topics. As such, experts in the field are invited to submit their original research or review papers.
Dr. Patrick R. Gonzales
Guest Editor
Manuscript Submission Information
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Keywords
- functional genomics
- cytogenetics
- cytogenomics
- microarray
- optical genome mapping (OGM)
- Hi-C
- genomic proximity mapping (GPM)
- intergenic
- topologically associating domains (TAD)
- expression
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