Functional Genomics of Rare Variants in Human Disease
A Special Issue of International Journal of Molecular Sciences (ISSN 1422-0067) belonging to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 December 2026 | Viewed by 614
Editor
Interests: human genome organization and evolution; human genetic diseases; epigenetic modifications and human diseases; epigenetics; molecular biology
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The rapid implementation of next-generation sequencing technologies has led to an unprecedented expansion in the identification of rare genetic variants across the human genome. While these variants are increasingly detected in both research and clinical settings, their functional interpretation remains a major challenge, particularly in the context of complex and heterogeneous human diseases.
This Special Issue aims to provide a comprehensive overview of current advances in the functional genomics of rare variants, with a focus on elucidating their biological impact and clinical relevance. We welcome contributions addressing experimental and computational approaches to variant characterization, including in vitro and in vivo functional assays, genome editing strategies, transcriptomic and epigenomic profiling, and integrative multi-omics analyses. We particularly encourage submissions that combine experimental and computational approaches to address the functional impact of rare variants. Despite these advances, a substantial proportion of rare variants identified through sequencing approaches remains of uncertain significance, highlighting the need for robust functional validation frameworks.
Particular emphasis will be placed on studies investigating rare variants in neurodevelopmental disorders, cancer predisposition, and other Mendelian and complex diseases, as well as on the development of novel frameworks for variant prioritization and pathogenicity assessment. Contributions exploring the interplay between rare variants, regulatory elements, and gene networks are also encouraged.
By bridging the gap between variant discovery and functional interpretation, this Special Issue aims to advance our understanding of disease mechanisms and to support the translation of genomic data into clinically actionable insights and precision medicine.
Prof. Dr. Salvatore Saccone
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- rare genetic variants
- functional genomics
- variant interpretation
- next-generation sequencing
- genome editing
- neurodevelopmental disorders
- Mendelian diseases
- multi-omics integration
- gene regulation
- precision medicine
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
