phers is an R package for studying Mendelian disease and rare genetic variants using linked electronic health record (EHR) data and genetic data. phers can calculate phenotype risk scores, validate the scores using case-control analyses, and perform genetic association analyses.

The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants, Aref et al., Bioinformatics 2022