Discriminating rare disease cases from their controls based on observed and excluded phenotypes
Yanting Guo, Yang Yao, Yiyao Zhang, Guangyou Duan, Ning Zhang, Shan Gao
This study uses machine learning to distinguish rare disease cases from controls using observed and excluded phenotypes, finding that Random Forest performs best and both specificity and occurrence count are important for feature selection.
bioRxiv · Sep 21, 2026 · PreprintBioinformatics