Open access
Aug 2026
Machine Learning approaches for the detection of disease-causing variants in whole-genome data need to address the expression of functional genes
A benchmark is constructed that includes real data and synthetic data with known generating mechanisms and various dataset sizes and levels of noise, and shows that it is necessary to take into account the expression of functional genes in order to successfully predict disease.
Camilla Mapstone, Julia Handl, David Talavera
· PLoS ONE · 0 citations