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BioinformaticsbioRxiv
Preprint

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

Lucy Lu WangiD, Huaiying LiniD, Xiaojun BaoiD, Subhajit SenguptaiD, Ben BusbyiD, Robert R. ButleriD

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.

PDFDOI

02 /Specification & Classification

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