The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants
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DOI: 10.1093/bioinformatics/btac619
Abstract: 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… read more here.
Keywords: phers package; phenotype; genetic variants; rare genetic ... See more keywords