Genetic & Genomic MedicineMolecular Genetics and MetabolismPeer-reviewed
Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas…·George J. G. Ruijter
This paper introduces Reafect, a computational method that integrates metabolomics and whole exome sequencing to prioritize disease-causing genes in inborn errors of metabolism, showing improved accuracy in identifying causative variants.
12 citations