Molecular Genetics and Genomic Medicine in Rare Disease
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 25 November 2026 | Viewed by 232
Special Issue Editor
Special Issue Information
Dear Colleagues,
Genetic testing has become a cornerstone in the diagnosis of inherited rare diseases, driven by rapid advances in next-generation sequencing technologies such as gene panels and whole-exome and -genome sequencing. These approaches have markedly increased diagnostic yield; however, the interpretation of identified variants remains a major challenge in both clinical and research settings. Variants of uncertain significance, incomplete penetrance, variable expressivity, and limited functional evidence frequently complicate genotype–phenotype correlations and clinical decision-making.
This Special Issue focuses on the molecular genetic and genomic aspects of rare inherited disorders, with particular emphasis on strategies for variant interpretation and clinical implementation of genetic testing. We welcome studies addressing bioinformatic pipelines, population databases, functional assays, transcriptomic and metabolomic integration, and standardized variant classification frameworks. Original research and review articles exploring diagnositic workflows, reanalysis strategies, and the clinical impact of genetic findings in rare diseases are encouraged. By bringing together methodological, translational, and clinical perspectives, this Special Issue aims to improve the interpretation of genetic variants and enhance precision diagnosis in inherited rare diseases.
Dr. Gu-Hwan Kim
Guest Editor
Manuscript Submission Information
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Keywords
- rare genetic diseases
- inherited disorders
- genetic testing
- next-generation sequencing
- variant interpretation
- genotype–phenotype correlation
- functional genomics
- molecular diagnosis
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