DOI: 10.1101/461301Nov 9, 2018Paper

PhenotypeXpression: sub-classification of disease states using public gene expression data and literature

BioRxiv : the Preprint Server for Biology
Lucy Lu WangRobert R Butler

Abstract

The success of personalized medicine relies on proper disease classification and subtyping. Differential gene expression among disease subtypes can have a significant impact on treatment effect. This complicates the role of clinicians seeking more tailored diagnoses in cases where granular disease subtypes are not well defined. PhenotypeXpression (PhenoX) is a tool for rapid disease subtyping using publicly available gene expression data and literature. PhenoX aggregates and clusters gene expression data to determine potential disease subtypes, and develops a phenotypic profile for each subtype using term co-occurrences in published literature. Although the availability of public gene expression data is limited, we are able to observe clearly defined subtypes for several conditions.

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