Calculate Phenotype Risk Scores
Mapping of Mendelian diseases and their clinical features
Identify cases and controls for Mendelian diseases
Perform association tests between phenotype risk scores and genotypes
Map ICD code occurrences to phecode occurrences
Calculate residual phenotype risk scores
Calculate phenotype risk scores
Calculate phecode-specific weights for phenotype risk scores
Mapping of HPO terms and phecodes
Mapping of ICD codes and phecodes
Map diseases to phecodes via HPO terms
Use phenotype risk scores based on linked clinical and genetic data to study Mendelian disease and rare genetic variants. See Bastarache et al. 2018 <doi:10.1126/science.aal4043>.