Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Plain-language summary
The authors developed phenotype risk scores (PheRS) that aggregate clinical features from electronic health records according to the patterns of 1,204 known Mendelian diseases, rather than examining symptoms one at a time. The score distinguished cases from controls for five Mendelian diseases, and applying it to 21,701 genotyped individuals uncovered 18 associations between rare genetic variants and Mendelian-consistent phenotypes, including 16 patients whose rare variants were linked to severe outcomes such as organ transplants. The work suggests undiagnosed Mendelian disease may be more common than assumed and that this approach can aid interpretation of rare genetic variants.
Read the full paper (DOI: 10.1126/science.aal4043).
This is a plain-language summary written for discoverability; the authoritative version is the published paper. Part of Travis Osterman's peer-reviewed publications.