Article

Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory

2025-03-30

Abstract excerpt

Multiple developmental and congenital disorders due to genetic variants or environmental exposures are associated with unique genome-wide alterations in DNA methylation (DNAm). Consequently, these patterns referred to as DNAm signatures, can be leveraged for diagnostic purposes by developing artificial intelligence (AI) models that enable molecular subclassification of individuals. Notably, DNAm signature applicat...

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Literature Corpus work: f2695acd-b974-5999-961a-33a7fd8f519e
DOI: 10.1101/2025.03.28.25324859

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