ArticleEuropean journal of human genetics : EJHG2015
Phenome-wide association studies (PheWASs) for functional variants.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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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.
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Who cites it
40 citing papers in PubMed.
- Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.Journal of human genetics · 2018Trial
- Oncogenicity Variant Interpreter (OncoVI) Supports Harmonized Somatic Variant Interpretation in Precision Oncology.The Journal of molecular diagnostics : JMD · 2026Article
- Article
- PHGDH mediated serine biosynthesis metabolism suppresses vascular calcification.Biology direct · 2026Article
- Association of lipid-lowering drugs with venous thromboembolism outcomes: a phenome-wide association study and a drug-target Mendelian randomization study.Journal of thrombosis and thrombolysis · 2026Article
- A Phenome-Wide Association and Mendelian Randomization Study of Genetically Predicted Membranous Nephropathy with Multiple Diseases.Kidney & blood pressure research · 2026Article
- Characterizing common loss-of-function genes and their potential utility in assessing population variability and chemical susceptibility.bioRxiv : the preprint server for biology · 2025Article
- Identification of novel biomarkers and drug targets for frailty-related skeletal muscle aging: a multi-omics study.QJM : monthly journal of the Association of Physicians · 2025Article
- Integrative multi-omics investigation of sleep apnea: gut microbiome metabolomics, proteomics and phenome-wide association study.Nutrition & metabolism · 2025Article
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- Article
- Deep learning-enabled analysis of medical images identifies cardiac sphericity as an early marker of cardiomyopathy and related outcomes.Med (New York, N.Y.) · 2023Article
- Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.JAMA oncology · 2022Article
- Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS.Annual review of biomedical data science · 2021Review
- A phenome-wide association study of genetically mimicked statins.BMC medicine · 2021Article
- A phenome-wide association study of ABO blood groups.BMC medicine · 2020Article
- Implicit bias of encoded variables: frameworks for addressing structured bias in EHR-GWAS data.Human molecular genetics · 2020Review
- Using phenome-wide association studies to examine the effect of environmental exposures on human health.Environment international · 2019Article
- Genomic and Phenomic Research in the 21st Century.Trends in genetics : TIG · 2019Review
- PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to identify clinically significant associations and describing function can be a challenge. GWAS is a phenotype-to-genotype approach. It is now possible to conduct a converse genotype-to-phenotype approach using extensive electronic medical records to define a phenome. This approach associates a single genetic variant with many phenotypes across the phenome and is called a phenome-wide association study (PheWAS). The majority of PheWASs conducted have focused on variants identified previously by GWASs. This approach has been efficient for rediscovering gene-disease associations while also identifying pleiotropic effects for some single-nucleotide polymorphisms (SNPs). However, the use of SNPs identified by GWAS in a PheWAS is limited by the inherent properties of the GWAS SNPs, including weak effect sizes and difficulty when translating discoveries to function. To address these challenges, we conducted a PheWAS on 105 presumed functional stop-gain and stop-loss variants genotyped on 4235 Marshfield Clinic patients. Associations were validated on an additional 10 640 Marshfield Clinic patients. PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associated with age-related macular degeneration (AMD). These results demonstrate that focusing on functional variants may be an effective approach when conducting a PheWAS.
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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.