Human Disease Phenome
Human-Disease-Phenome provides a pathway-level approach to analyzing human genetic variants with known disease associations. This approach can be used to discover new disease-variant associations, and allow for a deeper understanding of the molecular relationships between genetic mutations and disease. Ultimately, we propose that this method will constitute an important resource to aid in optimizing disease diagnosis, prognosis, and treatment.
To view supplemental material along with example files, download the zip file.