ReviewImmunology2014
The challenges, advantages and future of phenome-wide association studies.
Review in Immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 4 of them syntheses 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
87 citing papers in PubMed, 4 syntheses or guidelines pooled it, 169 citations in OpenAlex.
- The landscape of the methodology in drug repurposing using human genomic data: a systematic review.Briefings in bioinformatics · 2024Pooled it
- 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
- Robust meta-analysis of biobank-based genome-wide association studies with unbalanced binary phenotypes.Genetic epidemiology · 2019Pooled it
- Phenome-wide association studies across large population cohorts support drug target validation.Nature communications · 2018Pooled it
- Exploring the Pleiotropic Genetic Architecture of Substance Use Disorders: Findings From Phenome-Wide Association Studies.Biological psychiatry global open science · 2026Review
- Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes.Human genetics · 2025Article
- Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone Formation.Human mutation · 2025Article
- Integrative genetic and multi-omics analysis reveals the interleukin-6 receptor's role in recurrent spontaneous abortion.Frontiers in immunology · 2025Article
- Advancing allergic rhinitis research through phenome-wide association studies: Insights from known genetic loci.The World Allergy Organization journal · 2025Article
- Similar but Distinct Comorbidity Patterns Between Polycystic Ovary Syndrome and Endometriosis in Korean Women: A Nationwide Cohort Study.Journal of Korean medical science · 2024Article
- Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks.BMC genomics · 2024Article
- Identifying behaviour-related and physiological risk factors for suicide attempts in the UK Biobank.Nature human behaviour · 2024Article
- A time-resolved multi-omics atlas of transcriptional regulation in response to high-altitude hypoxia across whole-body tissues.Nature communications · 2024Article
- Clinical correlates of CT imaging-derived phenotypes among lean and overweight patients with hepatic steatosis.Scientific reports · 2024Article
- Genetically instrumented LDL-cholesterol lowering and multiple disease outcomes: A Mendelian randomization phenome-wide association study in the UK Biobank.British journal of clinical pharmacology · 2023Article
- Identification of Key Genes Associated with Heat Stress in Rats by Weighted Gene Co-Expression Network Analysis.Animals : an open access journal from MDPI · 2023Article
- pyPheWAS Explorer: a visualization tool for exploratory analysis of phenome-disease associations.JAMIA open · 2023Article
- Predicting decompression surgery by applying multimodal deep learning to patients' structured and unstructured health data.BMC medical informatics and decision making · 2023Article
- Integrating sperm cell transcriptome and seminal plasma metabolome to analyze the molecular regulatory mechanism of sperm motility in Holstein stud bulls.Journal of animal science · 2023Article
- DETECT: Feature extraction method for disease trajectory modeling in electronic health records.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2023Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Over the last decade, significant technological breakthroughs have revolutionized human genomic research in the form of genome-wide association studies (GWASs). GWASs have identified thousands of statistically significant genetic variants associated with hundreds of human conditions including many with immunological aetiologies (e.g. multiple sclerosis, ankylosing spondylitis and rheumatoid arthritis). Unfortunately, most GWASs fail to identify clinically significant associations. Identifying biologically significant variants by GWAS also presents a challenge. The GWAS is a phenotype-to-genotype approach. As a complementary/alternative approach to the GWAS, investigators have begun to exploit extensive electronic medical record systems to conduct a genotype-to-phenotype approach when studying human disease - specifically, the phenome-wide association study (PheWAS). Although the PheWAS approach is in its infancy, this method has already demonstrated its capacity to rediscover important genetic associations related to immunological diseases/conditions. Furthermore, PheWAS has the advantage of identifying genetic variants with pleiotropic properties. This is particularly relevant for HLA variants. For example, PheWAS results have demonstrated that the HLA-DRB1 variant associated with multiple sclerosis may also be associated with erythematous conditions including rosacea. Likewise, PheWAS has demonstrated that the HLA-B genotype is not only associated with spondylopathies, uveitis, and variability in platelet count, but may also play an important role in other conditions, such as mastoiditis. This review will discuss and compare general PheWAS methodologies, describe both the challenges and advantages of the PheWAS, and provide insight into the potential directions in which PheWAS may lead.
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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.