Genomic Data Analysis in Human Health and Disease
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 31 December 2025 | Viewed by 69
Special Issue Editors
2. Department of Precision and Regenerative Medicine and Ionian Area (DIMEPRE-J), University of Bari Aldo Moro, 70124 Bari, Italy
Interests: NGS; ADPKD; prenatal diagnosis; Sanger sequencing; nephrogenetic
2. Department of Medical Informatics, Emory University School of Medicine, Atlanta, GA 30322, USA
Interests: bioinformatics; computational biology; statistical genetics, genomics and epigenomics, multi-omics data integration; functional annotation; big data analytics; machine learning
Special Issue Information
Dear Colleagues,
The rapid advancement of high-throughput sequencing technologies and computational tools has revolutionized our understanding of the human genome, opening new frontiers in the diagnosis, prevention, and treatment of a wide array of diseases. Genomic data analysis plays a pivotal role in deciphering the complex relationships between genetic variants and human health outcomes, including rare genetic disorders, common complex diseases, and cancer. However, the field still faces major challenges such as the interpretation of vast genomic datasets, integration of multi-omics data, identification of causal variants, and the translation of genomic insights into clinical practice. This Special Issue focuses on the latest research and methodological advances in the analysis of genomic data related to human health and disease. We invite submissions that explore topics such as protein modeling and structure-function analysis, prediction of variant impact on protein function, development of new tools and algorithms for variant pathogenicity prediction, functional genomics, epigenetics, transcriptomics, and integrative multi-omics approaches. Studies addressing the clinical relevance of genomic findings, population genomics, and ethical considerations in genomic medicine are also welcome. By bringing together diverse contributions, this Special Issue aims to foster collaboration and innovation in the growing field of human genomics and its application to personalized medicine.
Dr. Ighli Di Bari
Prof. Dr. Zhaohui S. Qin
Guest Editors
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 100 words) can be sent to the Editorial Office for announcement on this website.
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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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
- protein modeling and structure-function prediction
- variant pathogenicity prediction tools
- functional annotation of genetic variants
- machine learning in genomics
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