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...

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Detalles Bibliográficos
Autores principales: Aref, Layla, Bastarache, Lisa, Hughey, Jacob J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Applications Notes
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

Internet

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

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