Genomic Research of Rare Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 30 December 2024 | Viewed by 343
Special Issue Editors
Interests: genomics; rare disease; bioinformatics; epigenomics
Special Issue Information
Dear Colleagues,
There are over 7000 rare diseases impacting over 300 million people worldwide. The ubiquity of whole exome and genome sequencing has transformed rare disease research and shortened lengthy diagnostic odysseys and are leading to changes in disease management, yet 60–70% of rare disease patients remain undiagnosed after genomic testing. Furthermore, the validation of variants of uncertain significance in candidate genes remains a tedious and lengthy process. Increasingly, the integration of multi-omics data, the reanalysis of prior genomic testing, emerging technologies, and computational approaches are contributing to rare disease diagnostics and enabling precision medicine.
This Special Issue aims to highlight the latest research and innovation in rare diseases, in particular, in the areas of genomic and multi-omics approaches as well as mechanistic research that aims to validate genomic findings. We invite original research, innovative methodologies, case studies, up-to-date reviews, meta-analyses, and discussions about therapeutic implications of genomic findings.
Dr. Shira Rockowitz
Dr. Piotr Sliz
Guest Editors
Manuscript Submission Information
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Keywords
- rare disease ontology
- variants of uncertain significance
- candidate genes
- whole genome sequencing
- long read whole genome sequencing
- machine learning
- multi-omics
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