Article

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

2022-06-09

Abstract excerpt

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 diseaselike phenotypes and...

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Literature Corpus work: 6c98def9-52c7-5413-9cba-e931fbb330ff
DOI: 10.1101/2022.06.07.495133

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