Epigenomics is a multiomic technology that studies epigenetic layers such as chromatin accessibility, DNA methylation, and non-coding RNAs to link genetic variation to gene regulation and downstream mechanisms. It is used to refine disease subtypes, identify biomarkers, and explain cell-type vulnerability and circuit dysfunction, with applications spanning psoriasis, transthyretin amyloidosis, breast cancer, and esophageal squamous cell carcinoma. In psychiatric disease research, it is highlighted as enabling integrative analyses that connect genetic variation to mechanisms of disease biology. In transthyretin amyloidosis, epigenomics is applied to clinical samples to identify risk factors beyond specific transthyretin variants. Overall, the field supports multi-omics integration for diagnosis, prognostication, and precision medicine, especially in complex diseases where regulation rather than coding variation drives phenotype.
Psychiatric disease
- A 2026 Current Opinion in Genetics & Development review (PMID:41831411) described epigenomics as a multiomic layer that integrates genetic variation with gene regulation, cell-type vulnerability, and circuit dysfunction.
- The same study emphasized its role in decoding disease mechanisms by connecting variation to regulatory consequences rather than sequence changes alone. (PMID:41831411)
Transthyretin amyloidosis
- Epigenomics was used in clinical samples to identify risk factors beyond specific transthyretin variants in transthyretin amyloidosis. (PMID:41898867)
- The review on omics analysis in transthyretin amyloidosis positioned epigenomics as a clinical research tool for uncovering additional disease modifiers. (PMID:41898867)
Cancer
- In breast cancer, epigenomics was one of the multi-omics layers used for subtype refinement and biomarker discovery in a 2026 Critical Reviews in Oncology/Hematology review. (PMID:41616992)
- The breast cancer review linked multi-omics convergence, including epigenomic data, to improved diagnosis, prognostication, and precision oncology. (PMID:41616992)
- In esophageal squamous cell carcinoma, epigenomics was included among the multi-omics domains synthesized for biomarker discovery in a 2026 International Journal of Oncology review. (PMID:42028731)
Inflammatory disease
- A 2026 Molecular Medicine Reports review on psoriasis highlighted epigenomics through chromatin accessibility, DNA methylation, non-coding RNAs, and gene regulation. (PMID:41891974)
- The psoriasis literature described epigenetic factors as regulators of psoriasis-related genes and contributors to disease pathogenesis. (PMID:41891974)
- This supports epigenomics as a mechanistic layer for understanding inflammatory disease biology and gene regulation. (PMID:41891974)