Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)

We present a comprehensive evaluation of how the normalization of DNA methylation data affects episignature performance, using three popular classification models. We further evaluate how missing data affect those models ’ predictions. Finally, we propose a novel methodology to develop episignatures based on differentially methylated regions identification and show how this method slightly outperforms classical episignatures in the presence of missing data.

Source: Human Genetics - October 27, 2023 Category: Genetics & Stem Cells Source Type: research