ReviewAnnual review of genomics and human genetics2016
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine.
Review in Annual review of genomics and human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 149 papers, 3 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
149 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.Nature human behaviour · 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
- Phenome-wide association studies across large population cohorts support drug target validation.Nature communications · 2018Pooled it
- Ionic Homeostasis Failure in Major Depressive Disorder: Ion Channel Mechanisms, Excitation-Inhibition Imbalance, and Precision Therapeutics.International journal of molecular sciences · 2026Review
- Phenome-wide association study of uterine fibroid subtypes reveals symptoms of fibroid severity and subtype-specific comorbidities.Research square · 2026Article
- Genome-wide association study of delay discounting identifies 11 loci and reveals transdiagnostic associations across mental and physical health.Molecular psychiatry · 2026Article
- Multi-omics Analysis Revealed the Diagnostic and Therapeutic Value of Immunogenic Cell Death-derived SCN5A in Hepatocellular Carcinoma.Molecular biotechnology · 2026Article
- Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- A deep ensemble encoder network method for improved polygenic risk score prediction.BioData mining · 2026Article
- Bridging bone and muscle: ontology-driven prioritization of candidate genes at the osteoporosis-sarcopenia interface by gene ontology reverse lookup.Frontiers in genetics · 2026Article
- Big data integration for enhanced epidemiological research: insights and directions from NHLBI's workshop.Frontiers in digital health · 2026Article
- Article
- Assessing the causal relationship between the plasma proteome and epilepsy: A Mendelian randomization study.Epilepsia open · 2025Article
- A phenome-wide association study of genetically determined nicotine metabolism reveals novel links with health-related outcomes.European journal of epidemiology · 2025Article
- Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer.Human genomics · 2025Article
- Integrative multi-omics investigation of sleep apnea: gut microbiome metabolomics, proteomics and phenome-wide association study.Nutrition & metabolism · 2025Article
- Associations of a multidimensional polygenic sleep health score and a sleep lifestyle index with disease outcomes and their interaction in a clinical biobank.Sleep health · 2025Article
- A phenome-wide association study of uterine fibroids reveals a marked burden of comorbidities.Communications medicine · 2025Article
- Expanding scope of genetic studies in the era of biobanks.Human molecular genetics · 2025Article
- Gene discovery and pleiotropic architecture of chronic pain in a genome-wide association study of >1.2 million individuals.Research square · 2025Article
89 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
3 authors.
Funding
Abstract
Beginning in the early 2000s, the accumulation of biospecimens linked to electronic health records (EHRs) made possible genome-phenome studies (i.e., comparative analyses of genetic variants and phenotypes) using only data collected as a by-product of typical health care. In addition to disease and trait genetics, EHRs proved a valuable resource for analyzing pharmacogenetic traits and developing reverse genetics approaches such as phenome-wide association studies (PheWASs). PheWASs are designed to survey which of many phenotypes may be associated with a given genetic variant. PheWAS methods have been validated through replication of hundreds of known genotype-phenotype associations, and their use has differentiated between true pleiotropy and clinical comorbidity, added context to genetic discoveries, and helped define disease subtypes, and may also help repurpose medications. PheWAS methods have also proven to be useful with research-collected data. Future efforts that integrate broad, robust collection of phenotype data (e.g., EHR data) with purpose-collected research data in combination with a greater understanding of EHR data will create a rich resource for increasingly more efficient and detailed genome-phenome analysis to usher in new discoveries in precision medicine.
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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.