Disease rarely results from differential abundance or activity of a single gene, instead, diseases result from differential activation of pathways of genes.
Discrete gene biomarkers have often proven to be insufficiently accurate and precise due to variability within a population and technical measurement variability. TopMD Maps are precise and accurate pathway biomarkers of disease phenotypes, measuring the topological shapes of pathway activation.
Clinical disease phenotypes may result from many different molecular phenotypes with different patterns of pathway activation. TopMD measures pathway activations in global gene expression data acquired using established, low cost gene expression assays.
TopMD can be trained to diagnose multiple diseases from the global gene expression profile of a single clinical sample. For example, TopMD was able to accurately and precisely diagnose 9 different diseases in 239 patients using blood microarray gene expression data; ROC AUC of 0.97.