Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Hidde H. Huidekoper, Janneke G. Langendonk, Martina Wilke, Walter G. de Valk, Henk J. Blom, Marcel J. T. Reinders, 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.
Molecular Genetics and Metabolism · May 25, 2022Peer-reviewedGenetic & Genomic Medicine