Genetic & Genomic MedicineOrphanet Journal of Rare DiseasesPeer-reviewed
Extending Inherited Metabolic Disorder diagnostics with Biomarker Interaction Visualizations
Denise Slenter, Irene M. G. M. Hemel, Chris T. Evelo…·Laura K.M. Steinbusch
This paper presents a framework integrating metabolic pathway knowledge with patient data to aid in diagnosing inherited metabolic disorders through visualization of biomarker interactions.
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