PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.
Standard approaches for large scale phenotypic screens using electronic health record (EHR) data apply thresholds, such as ≥2 diagnosis codes, to define subjects as having a phenotype. However, the variation in the accuracy of diagnosis codes can impair the power of such screens. Our objective was to develop and evaluate an approach which converts diagnosis codes into a probability of a phenotype (PheProb). We hypothesized that this alternate approach for [...]
Author(s): Sinnott, Jennifer A, Cai, Fiona, Yu, Sheng, Hejblum, Boris P, Hong, Chuan, Kohane, Isaac S, Liao, Katherine P
DOI: 10.1093/jamia/ocy056