ReviewJAMIA open2025
Exploring beyond diagnoses in electronic health records to improve discovery: a review of the phenome-wide association study.
Review in JAMIA open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.American journal of human genetics · 2026Pooled it
- A scalable approach for genomic-first rare disorder detection in a healthcare-based population.American journal of human genetics · 2025Article
- Phenotypic Selectivity of Artificial Intelligence-Enhanced Electrocardiography in Cardiovascular Diagnosis and Risk Prediction.Circulation · 2025Article
- monarchr: an R package for querying biomedical knowledge graphs.Bioinformatics (Oxford, England) · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Objective: The phenome-wide association study (PheWAS) systematically examines the phenotypic spectrum extracted from electronic health records (EHRs) to uncover correlations between phenotypes and exposures. This review explores methodologies, highlights challenges, and outlines future directions for EHR-driven PheWAS. Materials and Methods: We searched the PubMed database for articles spanning from 2010 to 2023, and we collected data regarding exposures, phenotypes, cohorts, terminologies, replication, and ancestry. Results: Our search yielded 690 articles. Following exclusion criteria, we identified 291 articles published between January 1, 2010, and December 31, 2023. A total number of 162 (55.6%) articles defined phenomes using phecodes, indicating that research is reliant on the organization of billing codes. Moreover, 72.8% of articles utilized exposures consisting of genetic data, and the majority (69.4%) of PheWAS lacked replication analyses. Discussion: Existing literature underscores the need for deeper phenotyping, variability in PheWAS exposure variables, and absence of replication in PheWAS. Current applications of PheWAS mainly focus on cardiovascular, metabolic, and endocrine phenotypes; thus, applications of PheWAS in uncommon diseases, which may lack structured data, remain largely understudied. Conclusions: With modern EHRs, future PheWAS should extend beyond diagnosis codes and consider additional data like clinical notes or medications to create comprehensive phenotype profiles that consider severity, temporality, risk, and ancestry. Furthermore, data interoperability initiatives may help mitigate the paucity of PheWAS replication analyses. With the growing availability of data in EHR, PheWAS will remain a powerful tool in precision medicine.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.