The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
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
Haptoglobin 1‐1 phenotype: A risk factor for 24‐hours polyuria
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Clinical Practice"
DOI: 10.1111/ijcp.13419
Abstract: Haptoglobin (Hp) displays three major phenotypes (Hp 1‐1, Hp 2‐2 and Hp 2‐1). Hp 1‐1 has been implicated in high blood pressure and salt sensitivity, and thus may mediate excess urine production. read more here.
Keywords: hours polyuria; phenotype risk; factor hours; risk factor ... See more keywords