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

Bioinformatics (Oxford, England) - 31 Oct 2022

Aref Layla, Bastarache Lisa, Hughey Jacob J

Abstract excerpt

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...

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PMID: 36083022
DOI: 10.1093/bioinformatics/btac619
PMCID: PMC9620826

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