In a concerted effort to enhance the integration of machine-learning with multi-omic data, health stakeholders are launching multi-center consortia to establish standardized protocols for methylation assays. This initiative follows a clear strategic trajectory toward deploying these advancements in clinical diagnostics and prognostics within the next 3–5 years. However, challenges such as data heterogeneity and regulatory hurdles pose significant risks to widespread adoption. Engaging regulators early and developing transparent ML pipelines will be crucial in navigating these complexities.
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“The dysregulation at the epigenetic level, such as DNA methylation, histone modifications, and changes in noncoding RNA, plays an important role in many serious human pathologies, including cancers.”
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“Moreover, data science, and information technology, especially machine learning and deep learning, have revolutionized the study of epigenetics in cancer, providing powerful tools to integrate both genetic and epigenetic data.”
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“Integrating epigenetic data with other data like omics and clinical data with the help of bioinformatics and data science is an emerging direction for deciphering the epigenetic landscape of cancer and identifying potential therapeutic targets.”
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“Ascites syndrome (AS), a prevalent nutritional and metabolic disorder in broilers, causes substantial economic losses to the poultry industry.”
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“These analyses revealed significant abnormalities in AS broilers.”
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“Validation via qPCR and bisulfite sequencing confirmed a significant negative correlation between the expression levels of HEMK1 and PMEPA1 and the methylation levels of their promoter CpG islands, supporting their roles as candidate genes in AS pathogenesis.”
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“This approach identified 891 genes in heart tissue and 1,424 genes in lung tissue with expression levels negatively correlated with promoter methylation.”
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“Among these, GATM demonstrated Tier 1 evidence, showing consistent causal associations with CP across all three levels.”
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“Specifically, methylation of cg10760299 in GATM was associated with lower GATM expression, increased protein levels, and a greater risk of CP.”
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“However, mtDNA copy number was not significantly associated with CP risk according to MR analysis.”
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“Approximately 70% of ovarian cancer (OC) patients relapse after chemotherapy, underscoring the need to assess survival before second-line treatment.”
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“We previously identified PLAT-M8, an 8-CpG blood-based methylation signature linked to chemoresistance. This study validates its correlation with clinicopathological features and treatment profiles in additional cohorts.”