DNA methylation profiling in 2026: overview
DNA methylation profiling maps chemical marks across selected genomic regions or the genome, helping researchers study gene regulation, disease and development without changing DNA sequence. In diagnostics, methylation patterns can reveal tissue origin or disease signals in cell-free DNA, while research uses them to examine aging, environmental response and cell identity. The central challenge is turning complex, tissue-dependent patterns into reproducible markers that work across samples and analytical methods.
Recent work is pushing toward richer signals and more accessible testing. In September 2026, MultiDMPcaller introduced software for detecting and visualizing differentially methylated positions and regions, addressing inconsistent results across analysis methods. In January 2026, SeekGene launched single-cell DNA methylation and RNA multi-omics; in February 2026, Syndex Bio introduced mcPCR. The Glioblastoma Foundation's laboratory began accepting patient samples in October 2026 for an assay combining methylation profiling with MGMT status, copy-number variation and subtype characterization. The direction is toward integrated, clinically usable assays, with consistency, validation and sample complexity still key hurdles.
- 1Signals beyond sequence: Cell-free DNA methylation is extending profiling toward non-invasive cancer, prenatal and injury-related research, where tissue-of-origin signals can add context to genetic tests.
- 2Richer measurements: Single-cell methylation paired with RNA and direct long-read measurement are broadening the view from average methylation toward cell-specific regulatory patterns.
- 3Analysis remains a bottleneck: Different statistical methods can identify differentially methylated regions inconsistently, making reproducible analysis and validation central to translating profiles into useful markers.
Top organizations working on DNA methylation profiling
Ranked by Linknovate activity score · last 24 monthsThe activity score adds up the relevance of every patent, publication, grant and news item linking an organization to DNA methylation profiling. Showing 7 of 3,000 organizations.
| # | Organization | Approach | Signals (24 mo) | Momentum | Why it matters |
|---|---|---|---|---|---|
| 1 | 
University of California
Research · United States |
Bisulfite conversion sequencing | PUB 281 · NEWS 26 | -7% | Recently, researchers have used whole-genome bisulfite sequencing to investigate methylation signatures in autism and cancer, alongside work on genome-wide library preparation and lower-cost enzymatic sequencing. |
| 2 | 
Fudan University
Research · China |
Bisulfite conversion sequencing | PUB 192 · NEWS 2 | +31% | Recently, researchers have used whole-genome bisulfite sequencing to study methylation patterns in schistosomes and develop blood-based gastric cancer profiling; GPS has also been proposed for genome-wide methylation and genetic-variation analysis. |
| 3 | 
German Cancer Research Center
Research · Germany |
General | PUB 164 · GRANTS 1 NEWS 14 |
+32% | Recently, researchers have used DNA methylation profiling to investigate meningioma progression. The center has also studied methylation variation in Chinese hamster ovary cells used to produce therapeutic proteins. |
| 4 | 
Chinese Academy of Sciences CAS
Research · China |
General | PUB 138 · NEWS 1 | +11% | Recently, researchers have profiled DNA methylation in fish and investigated how embryo vitrification affects DNA demethylation. This work applies methylome analysis to biological development and environmental responses. |
| 5 | 
Harvard University
Research · United States |
General | PAT 5 · PUB 195 NEWS 29 |
-3% | Recently, researchers developed FUSE, a data-driven method for segmenting DNA methylation into functional regions, and investigated methylation-defined regulatory elements and single-cell methylation data. |
| 6 | 
Stanford University
Research · United States |
Direct single-molecule sequencing | PAT 1 · PUB 163 NEWS 21 |
-1% | Recently, researchers used long-read genome sequencing to detect population-scale methylation outliers. Earlier work developed FLEXseq for profiling methylation in low-input and fragmented DNA. |
| 7 | 
Zhejiang University
Research · China |
General | PUB 124 · NEWS 8 | +20% | Recently, researchers used whole-genome methylation analysis to distinguish epithelial ovarian cancer subtypes and compare methylation patterns across extraembryonic tissues. The university also studies methylation in plant and animal development. |
| 8 | ··Hidden organizationCompany | Approach | PAT 00 · PUB 00 GRANTS 0 · NEWS 00 | +00% | Available to registered users. |
| 9 | ··Hidden organizationCompany | Approach | PAT 00 · PUB 00 GRANTS 0 · NEWS 00 | +00% | Available to registered users. |
| 10 | ··Hidden organizationCompany | Approach | PAT 00 · PUB 00 GRANTS 0 · NEWS 00 | +00% | Available to registered users. |
Startups to watch and leading research centers
Startups to watch 25 total
Altos Labs Inc.United StatesResearchers associated with the company study epigenetic changes in aging and rejuvenation, including methylation patterns linked to reprogramming and cell lineage.
GRAILUnited StatesGRAIL develops methylation-based approaches for cancer detection, including methods that use on-target and off-target sequencing data to assess disease signals.
Rhelixa Inc.JapanRhelixa provides epigenomic analysis services relevant to DNA methylation profiling, with applications spanning blood-based analysis and methylation studies in animal and human samples.- ··Hidden startupCountryAvailable to registered users, with funding and founding year.
- ··Hidden startupCountryAvailable to registered users, with funding and founding year.
Leading research institutions 2,691 total
- University of CaliforniaUnited StatesRecently, researchers have used whole-genome bisulfite sequencing to investigate methylation signatures in autism and cancer, alongside work on genome-wide library preparation and lower-cost enzymatic sequencing.
- Fudan UniversityChinaRecently, researchers have used whole-genome bisulfite sequencing to study methylation patterns in schistosomes and develop blood-based gastric cancer profiling; GPS has also been proposed for genome-wide methylation and genetic-variation analysis.
- German Cancer Research CenterGermanyRecently, researchers have used DNA methylation profiling to investigate meningioma progression. The center has also studied methylation variation in Chinese hamster ovary cells used to produce therapeutic proteins.
- ··Hidden research institutionCountryAvailable to registered users, with their key researchers.
- ··Hidden research institutionCountryAvailable to registered users, with their key researchers.
Where DNA methylation profiling innovation happens
Share of documents with at least one organization from each country.
Open the interactive map with all 3,000 organizationsMain technical approaches
Last 24 months| Approach | What it is | Documents | Leading organizations |
|---|---|---|---|
| Bisulfite conversion sequencing | Bisulfite treatment distinguishes methylated from unmethylated cytosines at base resolution, but can damage DNA and complicate library preparation. | 1,790 |
Nanjing Agricultural University, University of California, Chinese Academy of Sciences CAS |
| Enzymatic conversion sequencing | Enzymatic conversion identifies methylation while avoiding harsh chemical treatment, but protocols and analysis are still less standardized. | 137 |
Shanghai Epiprobe Biotechnology Co., NorthwesternUniversity Feinberg School ofMedicine, New England Biolabs |
| Methylation arrays | Arrays measure predefined CpG sites efficiently and consistently, but cannot survey sites outside the array design. | 287 |
German Cancer Research Center, University of Pennsylvania, University of Bristol |
| Affinity enrichment | Antibodies or binding proteins enrich methylated DNA for sequencing, reducing sequencing needs but offering less precise site-level measurement. | 167 |
University of California, University Health Network, University of Washington |
| Direct single-molecule sequencing | Long-read platforms detect DNA modifications directly and retain sequence context, but performance depends on platform-specific accuracy and analysis. | 535 |
Oxford Nanopore Technologies, Friedrich - Schiller University of Jena, Chulalongkorn University |
| Targeted PCR and restriction assays | PCR and restriction-based assays focus on selected loci for practical testing, but provide limited coverage beyond the chosen targets. | 1,045 |
MayoClinic, Fudan University, Shanghai Epiprobe Biotechnology Co. |
Emerging trends
Last 12 months vs previous 36 monthsTerms whose frequency in the last 12 months grew the most compared with the previous 36 months.
Funding and investment
Recent funding rounds
Funding data lists $75.7 million across 120 grants since 2020. The reported round total is $2.14 billion across 31 rounds, but round classifications may include broader institutional funding rather than direct assay development.
Patent landscape
Top patent holders · last 24 monthsRecent developments
Latest news, duplicates removed- Oct 2026The Foundation's CLIA-certified laboratory combines DNA methylation profiling, MGMT status, copy-number variation analysis and glioblastoma subtype characterization in a single assay DURHAM, N.C., October 31, 2026…Press Releases | Newsroom | Newswire
- Oct 2026telomere length analysis services. These services are designed to provide researchers and bioindustry companies with reliable, high-throughput tools for investigating cellular aging, age-related diseases, and potential…Press Release Distribution Service
- Sep 2026Dublin, Sept. 09, 2026 (GLOBE NEWSWIRE) -- The "Epigenetics - Market Insights, Competitive Landscape, and Market Forecast - 2034" has been added to ResearchAndMarkets.com's offering. The global epigenetics market is…GlobeNewswire: Industry News on Industrials
- Aug 2026Abstract Embryonic stem cells (ESCs) exhibit a hyperactive chromatin state at ribosomal RNA (rRNA) genes, which not only plays roles in active rRNA synthesis and ribosome biogenesis (RiBi), but also links to genome…PLOS Biology
- Month 20XXHidden developmentAvailable to registered users with alerts enabled.
Frequently asked questions about DNA methylation profiling
What companies are working on DNA methylation profiling?
Guardant Health, GRAIL, Freenome Inc., Illumina and Shanghai Epiprobe Biotechnology Co. appear among patent holders; Guardant Health has 21 listed patents. The topic data also identifies 309 companies and 25 startups. Commercial activity includes targeted assays and sequencing, with cancer detection a prominent use for methylation-based approaches.
Which DNA methylation profiling startups are most promising in 2026?
GRAIL, Altos Labs Inc. and Rhelixa Inc. are listed as startups active in DNA methylation profiling, with 19, 30 and 6 recent-window documents, respectively. Their work spans methylation-based cancer detection, epigenetic changes in aging and rejuvenation, and epigenomic analysis services. These profiles show different areas of activity rather than a comparative assessment of commercial prospects.
Which universities and research centers lead DNA methylation profiling research?
The University of California has 307 recent-window documents, Fudan University has 194, and the German Cancer Research Center has 181. Their research includes whole-genome bisulfite sequencing, blood-based cancer profiling, meningioma progression and methylation variation in cell lines. These figures indicate research activity in the topic data, not a measure of research quality.
How much funding has DNA methylation profiling received?
Funding data lists $75,704,388 across 120 grants since 2020. It also records 31 funding rounds totaling $2,144,697,829. These are topic-level classifications, so the round total may include broader institutional or infrastructure funding rather than money dedicated solely to methylation profiling products or assays.
Who holds the most DNA methylation profiling patents?
Guardant Health leads the listed patent holders with 21 patents, followed by MayoClinic with 10 and GRAIL and Shanghai Epiprobe Biotechnology Co. with 9 each. Freenome Inc. has 7, while Illumina and Beiersdorf AG each have 6. These counts describe patent-holder records in the topic data.
Is DNA methylation profiling patent activity growing?
Patent activity is down: 262 patents fall within the 24-month window, while patent growth is -51.1% for the last 12 months versus the previous 12 months. This contrasts with publication growth of 4.2% over the same comparison period. Patent counts show filing activity, not whether methods have achieved clinical validation or commercial adoption.
What are the latest developments in DNA methylation profiling?
Recent developments include MultiDMPcaller, published in September 2026 for detecting and visualizing differentially methylated positions and regions, and SeekGene's single-cell methylation-plus-RNA solution, launched in January 2026. In October 2026, the Glioblastoma Foundation laboratory began accepting patient samples for an assay combining methylation profiling with MGMT status, copy-number analysis and subtype characterization.
What are the main approaches in DNA methylation profiling, and how do they differ?
Bisulfite conversion sequencing (1,790 documents) and targeted PCR and restriction assays (1,045 documents) are two approaches in the topic data. Other methods include enzymatic conversion, methylation arrays, affinity enrichment and direct single-molecule sequencing. They trade off genome coverage, resolution, sample handling and assay complexity, so method choice depends on the research or diagnostic objective.
What are the applications of DNA methylation profiling?
Cancer diagnostics and monitoring (1,228 documents), aging and age-related disease (1,055), and prenatal and developmental health (961) are documented applications. Other areas include plant science and crop improvement, environmental health and exposure research. Recent studies also examine cell-free DNA signals in traumatic brain injury and prenatal methylation associations with autism and maternal obesity.