Next-Generation Sequencing in Rare Genetic Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 10 April 2026 | Viewed by 846
Special Issue Editors
2. IRCCS Mondino Foundation, Pavia, Italy
Interests: molecular genetics; clinical genetics; next generation sequencing (NGS); molecular karyotyping; prenatal diagnosis; neurogenomics; oncogenomics; bioinformatics
Special Issues, Collections and Topics in MDPI journals
Interests: genetics of rare diseases; bioinformatics; NGS data analysis (exome/genome, long-reads, Hi-C) for the identification of structural variations and germline, de novo, post-zygotic variants
Special Issue Information
Dear Colleagues,
Rare genetic diseases (RGDs) affect more than 300–400 million people worldwide. In a large portion of cases, people with an undiagnosed disease incur in the so-called “diagnostic odyssey”. An accurate diagnosis of an RGD can result in better clinical management, the identification of potential therapeutics, and the avoidance of unnecessary treatments that may have non-negligible side effects. In the last decade, the advent of NGS (next-generation sequencing) and omics sciences, such as genomics, transcriptomics, and methylomics, has completely revolutionized the approach to RGDs. In this new scenario, bioinformatics tools, often based on artificial intelligence (AI) approaches, have evolved significantly in parallel with new technological approaches (e.g., long-read sequencing).
This Special Issue aims to highlight the contribution of these novel approaches to unravel the pathogenetic mechanisms, discover novel disease genes and genotype–phenotype associations, and depict the genetic architecture underlying RGDs and driving novel therapeutic approaches. Original articles, case series, reviews, and descriptions of new methodologies in the field of RDs are welcome to contribute to this Special Issue.
Potential topics include, but are not limited to, the following: innovative approaches (NGS-based) to the diagnosis of RGDs (genomic medicine and multiomics data integration), big data and artificial intelligence, disease gene discovery, network analysis and rare disease (epi)signatures, including multilocus and mosaic disorders.
We look forward to receiving your contributions.
Dr. Edoardo Errichiello
Dr. Paola Dimartino
Guest Editors
Manuscript Submission Information
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Keywords
- rare genetic diseases
- next-generation sequencing
- bioinformatics
- multiomics data
- artificial intelligence
- gene discovery
- single nucleotide variants
- structural variants
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