ReviewThe Journal of physiology2017
Phenome-wide association studies: a new method for functional genomics in humans.
Review in The Journal of physiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 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
25 citing papers in PubMed, 2 syntheses or guidelines pooled 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
- Phenome-wide association studies across large population cohorts support drug target validation.Nature communications · 2018Pooled it
- ReverseGWAS identifies combined phenotypes associated with a genotype in GWA studies.Bioinformatics (Oxford, England) · 2026Article
- Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes.Human genetics · 2025Article
- Advancing allergic rhinitis research through phenome-wide association studies: Insights from known genetic loci.The World Allergy Organization journal · 2025Article
- Phenome-wide association study and precision medicine of cardiovascular diseases in the post-COVID-19 era.Acta pharmacologica Sinica · 2023Review
- Phenomic Studies on Diseases: Potential and Challenges.Phenomics (Cham, Switzerland) · 2023Review
- The Human Extracellular Matrix Diseasome Reveals Genotype-Phenotype Associations with Clinical Implications for Age-Related Diseases.Biomedicines · 2023Article
- Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS.Annual review of biomedical data science · 2021Review
- Fate or coincidence: do COPD and major depression share genetic risk factors?Human molecular genetics · 2021Article
- A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study.Scientific reports · 2021Article
- What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?Orphanet journal of rare diseases · 2021Article
- Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations.Frontiers in allergy · 2021Article
- The extracellular matrix phenome across species.Matrix biology plus · 2020Article
- A Comprehensive Assessment of the Associations Between Season of Conception and Birth Defects, Texas, 1999-2015.International journal of environmental research and public health · 2020Article
- Mendelian randomization case-control PheWAS in UK Biobank shows evidence of causality for smoking intensity in 28 distinct clinical conditions.EClinicalMedicine · 2020Article
- Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.Nature medicine · 2020Article
- Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness.Human molecular genetics · 2019Article
- Genetic and Epigenetic Studies in Diabetic Kidney Disease.Frontiers in genetics · 2019Review
- Genomic and Phenomic Research in the 21st Century.Trends in genetics : TIG · 2019Review
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.
Funding
Abstract
In experimental physiological research, a common study design for examining the functional role of a gene or a genetic variant is to introduce that genetic variant into a model organism (such as yeast or mouse) and then to search for phenotypic consequences. The development of DNA biobanks linked to dense phenotypic information enables such an experiment to be applied to human subjects in the form of a phenome-wide association study (PheWAS). The PheWAS paradigm takes advantage of a curated medical phenome, often derived from electronic health records, to search for associations between 'input functions' and phenotypes in an unbiased fashion. The most commonly studied input function to date has been single nucleotide polymorphisms (SNPs), but other inputs, such as sets of SNPs or a disease or drug exposure, are now being explored to probe the genetic and phenotypic architecture of human traits. Potential outcomes of these approaches include defining subsets of complex diseases (that can then be targeted by specific therapies) and drug repurposing.
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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.