Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS.
Mendelian genetics
electronic health record
genomics
phecodes
phenome-wide association study (PheWAS)
phenotype risk score
phenotype risk score (PheRS)
phenotyping
Journal
Annual review of biomedical data science
ISSN: 2574-3414
Titre abrégé: Annu Rev Biomed Data Sci
Pays: United States
ID NLM: 101714020
Informations de publication
Date de publication:
20 07 2021
20 07 2021
Historique:
entrez:
1
9
2021
pubmed:
2
9
2021
medline:
26
10
2021
Statut:
ppublish
Résumé
Electronic health records (EHRs) are a rich source of data for researchers, but extracting meaningful information out of this highly complex data source is challenging. Phecodes represent one strategy for defining phenotypes for research using EHR data. They are a high-throughput phenotyping tool based on ICD (International Classification of Diseases) codes that can be used to rapidly define the case/control status of thousands of clinically meaningful diseases and conditions. Phecodes were originally developed to conduct phenome-wide association studies to scan for phenotypic associations with common genetic variants. Since then, phecodes have been used to support a wide range of EHR-based phenotyping methods, including the phenotype risk score. This review aims to comprehensively describe the development, validation, and applications of phecodes and suggest some future directions for phecodes and high-throughput phenotyping.
Identifiants
pubmed: 34465180
doi: 10.1146/annurev-biodatasci-122320-112352
pmc: PMC9307256
mid: NIHMS1823813
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1-19Subventions
Organisme : NLM NIH HHS
ID : R01 LM010685
Pays : United States
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