Distilling Epigenetics: Adaptive Regression Uncovers Spitzoid Tumor Biomarkers

Ilán Carretero, Rocío del Amor, Germán Casabó-Vallés, Silvia Perez-Deben, Andrés Mosquera-Zamudio, Eva García, Carlos Monteagudo, Valery Naranjo

Abstract: Accurate diagnosis of spitzoid tumors is crucial, as inappropriate treatment can have severe clinical consequences. Epigenetic biomarker signatures compatible with low-cost molecular techniques offer a promising strategy to enhance diagnostic accuracy and deepen our understanding of the disease. In this work, we introduce a novel framework for establishing a reliable and interpretable epigenetic signature derived from whole-genome bisulfite sequencing data and validated by pyrosequencing. Our approach combines advanced multivariate statistical techniques with two innovative methods. One efficiently selects an epigenetic biomarker signature from preliminary candidates, while the other adaptively addresses missing values commonly encountered in molecular assays. Together, these methods yield robust performance, high interpretability, and consistency, suggesting a promising pathway toward a clinically applicable diagnostic tool for spitzoid tumors.

External IDs:dblp:conf/eusipco/CarreteroACPMGMN25