Integrative Genetic and Multi-Omics Approaches to Disease Biology
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: 31 October 2026 | Viewed by 59
Special Issue Editor
Special Issue Information
Dear Colleagues,
Recent advances in human genomics and multi-omics have expanded our ability to investigate the genetic architecture of rare and complex diseases. Although genome-wide association studies (GWAS) have identified thousands of disease-associated loci, translating these signals into causal variants, disease-relevant genes, and actionable biological mechanisms remains challenging. Integrative analyses combining transcriptomic, epigenomic, proteomic, metabolomic, and single-cell data are helping address this challenge. Complementary approaches, including Mendelian randomisation, summary-data-based Mendelian randomisation, colocalisation, fine-mapping, and gene- or pathway-based analyses, can strengthen inference and support prioritisation of candidate variants and genes, as well as elucidation of biological mechanisms. These approaches are important for biomarker discovery, therapeutic target prioritisation, pharmacogenomics, and precision medicine. Cross-disease and pleiotropy-focused analyses are also valuable.
This Special Issue aims to showcase innovative integrative studies that advance variant and gene identification, prioritisation, functional interpretation, and clinically meaningful discovery.
We welcome original research articles and integrative studies spanning both rare and complex diseases. Submissions should move beyond genome-wide association signals to elucidate the functional consequences of genetic variation. Studies integrating multi-omics layers, including transcriptomics, epigenomics, proteomics, metabolomics, and single-cell datasets, are encouraged. Analyses leveraging Mendelian randomisation, colocalisation, fine-mapping, and gene- or pathway-based approaches are also welcome. Emphasis is placed on biologically and clinically meaningful discoveries, including biomarker development, therapeutic target identification/prioritisation, pharmacogenomics, and precision medicine applications. Cross-disease, pleiotropy-focused, and systems-level studies spanning immune, neurodegenerative, psychiatric, inflammatory, metabolic, cardiovascular, neurodevelopmental, and infectious diseases are strongly aligned with the aims of this issue.
In this Special Issue, we welcome original research articles, systematic reviews and meta-analyses, GWAS meta-analyses, multi-omic, integrative and cross-trait genomic studies, and perspective or hypothesis-driven articles with strong conceptual contributions. Submissions should address unresolved challenges in disease genomics and provide biological or clinical insight. Research areas may include, but are not limited to, the following themes:
- Identification and prioritisation of putative disease‑causing genes and variants
- Fine‑mapping and locus‑level dissection of GWAS signals
- Regulatory genomics, including eQTLs, mQTLs, and other molecular QTL analyses
- Integrative multi‑omics approaches (transcriptomics, epigenomics, proteomics, metabolomics, single‑cell genomics)
- Mendelian randomisation, colocalisation, and causal inference frameworks
- Cross‑disease, pleiotropy‑focused, and shared genetic architecture analyses
- Gene‑ and pathway‑based association and enrichment methods
- Translational genomics, including biomarker discovery and drug target prioritisation
- Precision medicine, pharmacogenomics, and genotype‑guided risk stratification
We look forward to receiving your contributions.
Dr. Emmanuel Adewuyi
Guest Editor
Manuscript Submission Information
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Keywords
- disease genes
- human genomics
- GWAS
- multi-omics
- regulatory genomics
- mendelian randomisation
- gene prioritisation
- pleiotropy
- precision medicine
- translational genetics
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