ArticleAmerican journal of human genetics2018
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 3 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 3 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.Scientific reports · 2022Pooled it
- LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks.PLoS genetics · 2020Pooled it
- Multi-Ancestry Genome-Wide Association Study of Spontaneous Clearance of Hepatitis C Virus.Gastroenterology · 2019Pooled it
- AI-based multimodal integration of genomics and electronic health records.Nature reviews. Genetics · 2026Review
- Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.Nature genetics · 2026Review
- Article
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- A one-shot, lossless algorithm for cross-cohort learning in mixed-outcomes analysis.Patterns (New York, N.Y.) · 2025Article
- A genome-wide association study of high-sensitivity C-reactive protein in a large Korean population highlights its genetic relationship with cholesterol metabolism.Scientific reports · 2025Article
- Uncovering Important Diagnostic Features for Alzheimer's, Parkinson's and Other Dementias Using Interpretable Association Mining Methods.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2025Article
- Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification.Nature genetics · 2024Article
- Development of electronic health record based algorithms to identify individuals with diabetic retinopathy.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.Cell genomics · 2024Article
- Genome-wide large-scale multi-trait analysis characterizes global patterns of pleiotropy and unique trait-specific variants.Nature communications · 2024Article
- PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies.Genome medicine · 2024Article
- Phenome-wide association network demonstrates close connection with individual disease trajectories from the HUNT study.PloS one · 2024Article
- A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes.Nature metabolism · 2023Article
- Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.Nature communications · 2022Article
- Maturation and application of phenome-wide association studies.Trends in genetics : TIG · 2022Review
- Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine.Journal of personalized medicine · 2022Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most phenome-wide association studies (PheWASs) to date have used a small to moderate number of SNPs for association with phenotypic data. We performed a large-scale single-cohort PheWAS, using electronic health record (EHR)-derived case-control status for 541 diagnoses using International Classification of Disease version 9 (ICD-9) codes and 25 median clinical laboratory measures. We calculated associations between these diagnoses and traits with ∼630,000 common frequency SNPs with minor allele frequency > 0.01 for 38,662 individuals. In this landscape PheWAS, we explored results within diseases and traits, comparing results to those previously reported in genome-wide association studies (GWASs), as well as previously published PheWASs. We further leveraged the context of functional impact from protein-coding to regulatory regions, providing a deeper interpretation of these associations. The comprehensive nature of this PheWAS allows for novel hypothesis generation, the identification of phenotypes for further study for future phenotypic algorithm development, and identification of cross-phenotype associations.
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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.