ArticleCells2022
Artificial Intelligence and Circulating Cell-Free DNA Methylation Profiling: Mechanism and Detection of Alzheimer's Disease.
Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Crosstalk Between Gut Microbiota, Epigenome, and Neurotransmitters in Health and Disease.Cells · 2026Review
- Establishment and Performance Evaluation of a Multiplexed TET2-APOBEC-Mediated cfDNA Methylation Detection Workflow Using qPCR and dPCR Readouts.Journal of personalized medicine · 2026Article
- Environmental exposures and epigenetic alterations in common chronic diseases: insights and challenges.Environmental epigenetics · 2026Review
- DNA methylation and machine learning: challenges and perspective toward enhanced clinical diagnostics.Clinical epigenetics · 2025Review
- Cardiovascular-Derived Circulating Cell-Free DNA Fragments Are Associated With Frailty and Increased Cardiovascular Events in Older Adults.The journals of gerontology. Series A, Biological sciences and medical sciences · 2025Article
- Advancing Personalized Medicine in Alzheimer's Disease: Liquid Biopsy Epigenomics UnveilInternational journal of molecular sciences · 2025Article
- The Potential of cfDNA as Biomarker: Opportunities and Challenges for Neurodegenerative Diseases.Journal of molecular neuroscience : MN · 2025Review
- Liquid Biopsy in Neuropsychiatric Disorders: A Step Closer to Precision Medicine.Molecular neurobiology · 2025Review
- Diagnostic role of circulating cell-free DNA in schizophrenia and neuro-degenerative disorders.Biomarkers in medicine · 2025Review
- Whole-genome bisulfite sequencing of cell-free DNA unveils age-dependent and ALS-associated methylation alterations.Cell & bioscience · 2025Article
- Cell-Free DNA, a Noninvasive Biomarker for Prediction and Detection of Neurodegenerative Diseases, New Insights, and Perspectives.CNS & neurological disorders drug targets · 2025Review
- Article
- Considering Biomarkers of Neurodegeneration in Alzheimer's Disease: The Potential of Circulating Cell-Free DNA in Precision Neurology.Journal of personalized medicine · 2024Review
- Potential Ocular Biomarkers for Early Detection of Alzheimer's Disease and Their Roles in Artificial Intelligence Studies.Neurology and therapy · 2023Review
- Revolutionizing the Early Detection of Alzheimer's Disease through Non-Invasive Biomarkers: The Role of Artificial Intelligence and Deep Learning.Sensors (Basel, Switzerland) · 2023Review
- Alzheimer's Precision Neurology: Epigenetics of Cytochrome P450 Genes in Circulating Cell-Free DNA for Disease Prediction and Mechanism.International journal of molecular sciences · 2023Article
- Circulating cell-free DNA methylation mirrors alterations in cerebral patterns in epilepsy.Clinical epigenetics · 2022Article
- Novel CSF Biomarkers Tracking Autoimmune Inflammatory and Neurodegenerative Aspects of CNS Diseases.Diagnostics (Basel, Switzerland) · 2022Review
- Precision gynecologic oncology: circulating cell free DNA epigenomic analysis, artificial intelligence and the accurate detection of ovarian cancer.Scientific reports · 2022Article
- The DNA Methylation in Neurological Diseases.Cells · 2022Review
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Despite extensive efforts, significant gaps remain in our understanding of Alzheimer’s disease (AD) pathophysiology. Novel approaches using circulating cell-free DNA (cfDNA) have the potential to revolutionize our understanding of neurodegenerative disorders. Methods: We performed DNA methylation profiling of cfDNA from AD patients and compared them to cognitively normal controls. Six Artificial Intelligence (AI) platforms were utilized for the diagnosis of AD while enrichment analysis was used to elucidate the pathogenesis of AD. Results: A total of 3684 CpGs were significantly (adj. p-value < 0.05) differentially methylated in AD versus controls. All six AI algorithms achieved high predictive accuracy (AUC = 0.949−0.998) in an independent test group. As an example, Deep Learning (DL) achieved an AUC (95% CI) = 0.99 (0.95−1.0), with 94.5% sensitivity and specificity. Conclusion: We describe numerous epigenetically altered genes which were previously reported to be differentially expressed in the brain of AD sufferers. Genes identified by AI to be the best predictors of AD were either known to be expressed in the brain or have been previously linked to AD. We highlight enrichment in the Calcium signaling pathway, Glutamatergic synapse, Hedgehog signaling pathway, Axon guidance and Olfactory transduction in AD sufferers. To the best of our knowledge, this is the first reported genome-wide DNA methylation study using cfDNA to detect AD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.