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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
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 resem...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9620826/ https://www.ncbi.nlm.nih.gov/pubmed/36083022 http://dx.doi.org/10.1093/bioinformatics/btac619 |