PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies

ConclusionsPheProb improves statistical power for association studies relative to standard thresholding approaches by leveraging information about the phenotype in the billing code counts. The PheProb approach has direct applications where efficient approaches are required, such as in Phenome-Wide Association Studies.
Source: Journal of the American Medical Informatics Association - Category: Information Technology Source Type: research