AIMC Topic: CpG Islands

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Global DNA methylation signatures associated with chemoresistance and poor prognosis of high grade serous ovarian cancer.

Scientific reports
Ovarian cancer (OVCA) is third most lethal gynecologic cancers and acquired chemoresistance is the key link in the high mortality rate of OVCA patients. Currently, there are no reliable methods to predict chemoresistance in OVCA. In our study, we ide...

A ternary-code DNA methylome atlas of mouse tissues.

Genome biology
BACKGROUND: DNA cytosine modifications, including 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC), are key epigenetic regulators with distinct functions. Dissecting the ternary code (C, 5mC, 5hmC) across tissues and cell types remains a cri...

Circulating epigenetic signatures classifying brain insulin resistance in humans.

Science translational medicine
Brain insulin action plays an important role in metabolic and cognitive health, but there is no biomarker available to assess brain insulin resistance in humans. Here, we developed a machine learning framework based on blood DNA methylation profiles ...

Epigenomic diagnosis and prognosis of Acute Myeloid Leukemia.

Nature communications
Despite the critical role of DNA methylation, clinical implementations harnessing its promise have not been described in acute myeloid leukemia. Utilizing DNA methylation from 3314 leukemia patient samples across 11 harmonized cohorts, we describe th...

Exploring potential methylation markers for ovarian cancer from cervical scraping samples.

Human genomics
BACKGROUND: Ovarian cancer has the highest mortality rate among gynecological cancers, making early detection crucial, as the five-year survival rate drops from 92% with early-stage diagnosis compared to 31% with late-stage diagnosis. Current diagnos...

Epigenome-wide association study identifies a specific panel of DNA methylation signatures for antenatal and postpartum depressive symptoms.

Journal of affective disorders
Depression during pregnancy and postpartum poses significant risks to both maternal and child well-being. The underlying biological mechanisms are unclear, but epigenetic variation could be exploited as a plausible candidate for early detection. We i...

Genome-wide methylome modeling via generative AI incorporating long- and short-range interactions.

Science advances
Using millions of methylation segments, we developed DiffuCpG, a generative artificial intelligence (AI) diffusion model designed to solve the critical challenge of missing data in high-throughput methylation technologies. DiffuCpG goes beyond conven...

Deep learning imputes DNA methylation states in single cells and enhances the detection of epigenetic alterations in schizophrenia.

Cell genomics
DNA methylation (DNAm) is a key epigenetic mark with essential roles in gene regulation, mammalian development, and human diseases. Single-cell technologies enable profiling DNAm at cytosines in individual cells, but they often suffer from low covera...

Explainable artificial intelligence of DNA methylation-based brain tumor diagnostics.

Nature communications
We have recently developed a machine learning classifier that enables fast, accurate, and affordable classification of brain tumors based on genome-wide DNA methylation profiles that is widely employed in the clinic. Neuro-oncology research would ben...

Identification of a novel hypermethylation marker, ZSCAN18, and construction of a diagnostic model in cervical cancer.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
PURPOSE: Cervical cancer (CC), a common female malignancy, has been linked to alterations in DNA methylation. This study employed an integrated "dry-wet lab" strategy combining bioinformatics, machine learning, and experimental validation to identify...