Genomics of Human Disease
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 June 2025 | Viewed by 934
Special Issue Editor
Special Issue Information
Dear Colleagues,
This Special Issue, "Genomics of Human Disease", will advance our understanding of the genetic and genomic mechanisms underlying complex human diseases. We aim to showcase cutting-edge research across diverse methodologies, including genome-wide association studies (GWASs), next-generation sequencing (NGS), epigenomic profiling, single-cell omics, and functional genomics. This Special Issue will emphasize translational applications to identify therapeutic targets, improve diagnostic tools, and develop personalized treatment strategies.
Key Areas of Focus:
Genetic and epigenetic drivers of neurodegenerative, metabolic, cardiovascular, and immune-related disorders.Population genomics and genetic epidemiology to uncover disease susceptibility across diverse ancestries.Novel technologies for dissecting disease mechanisms.Precision medicine approaches, including pharmacogenomics and gene therapy development.Multi-omics integration to resolve genotype-phenotype relationships and biomarker discovery.
Submission Types:
We welcome original research articles, systematic reviews/meta-analyses, methodological advances, and perspective pieces that address unresolved challenges in disease genomics. Case reports with novel mechanistic insights or clinical implications are also encouraged. This collection seeks to bridge basic research and clinical applications, fostering collaboration among geneticists, clinicians, and bioinformaticians to accelerate breakthroughs in human health.
Dr. Sungkyoung Choi
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 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. 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
- genome-wide association study (GWAS)
- next-generation sequencing (NGS)
- multi-omics analysis
- epidemiology data analysis
- precision medicine approaches
- disease prediction analysis
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