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Towards a more molecular taxonomy of disease.


ABSTRACT:

Background

Disease taxonomies have been designed for many applications, but they tend not to fully incorporate the growing amount of molecular-level knowledge of disease processes, inhibiting research efforts. Understanding the degree to which we can infer disease relationships from molecular data alone may yield insights into how to ultimately construct more modern taxonomies that integrate both physiological and molecular information.

Results

We introduce a new technique we call Parent Promotion to infer hierarchical relationships between disease terms using disease-gene data. We compare this technique with both an established ontology inference method (CliXO) and a minimum weight spanning tree approach. Because there is no gold standard molecular disease taxonomy availabl

SUBMITTER: Park J 

PROVIDER: S-EPMC5530939 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature