Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures

Episignatures for prenatal diagnosis would be invaluable for classifying variants of uncertain significance. Using trisomy 21, we developed a proof-of-concept framework to classify prenatal samples by leveraging DNA methylation data from multiple tissues. This approach represents a scalable, cell-type-agnostic DNA-methylation-based biomarker with many potential applications.