The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants.

ABSTRACT:

Summary

Electronic health record (EHR) data linked to DNA biobanks are a valuable resource for understanding the phenotypic effects of human genetic variation. We previously developed the phenotype risk score (PheRS) as an approach to quantify the extent to which a patient's clinical features resemble a given Mendelian disease. Using PheRS, we have uncovered novel associations between Mendelian disease-like phenotypes and rare genetic variants, and identified patients who may have undiagnosed Mendelian disease. Although the PheRS approach is conceptually simple, it involves multiple mapping steps and was previously only available as custom scripts, limiting the approach's usability. Thus, we developed the phers R package, a complete and user-friendly set of functions and maps for p

SUBMITTER: Aref L 

PROVIDER: S-EPMC9620826 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature