ReviewNature reviews. Genetics2016
Unravelling the human genome-phenome relationship using phenome-wide association studies.
Review in Nature reviews. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 161 papers, 5 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
161 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- The landscape of the methodology in drug repurposing using human genomic data: a systematic review.Briefings in bioinformatics · 2024Pooled it
- Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.Genome biology · 2022Pooled it
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.Circulation · 2018 · on this mapPooled it
- Phenome-wide association studies across large population cohorts support drug target validation.Nature communications · 2018Pooled it
- Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202.Pharmacogenetics and genomics · 2017Trial
- Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children.Scientific reports · 2016Trial
- Beyond the Classics: The Synergy of AI and Genomics Reveals an Expanded Repertoire of Pigmentation Genes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2026Review
- Causal and shared genetic insights into severe COVID-19 and idiopathic pulmonary fibrosis.iScience · 2026Article
- PHGDH mediated serine biosynthesis metabolism suppresses vascular calcification.Biology direct · 2026Article
- Article
- Towards improved fine-mapping of candidate causal variants.Nature reviews. Genetics · 2025Review
- Peripheral immune cell-specific genes in Parkinson's disease uncovered by multi-omics with therapeutic implications.NPJ Parkinson's disease · 2025Article
- Quantitative 1H-NMR spectroscopy identifies metabolites and lipoprotein subclasses associated with intermediate phenotypes of chronic diseases in the Japanese Nagahama Study.Scientific reports · 2025Article
- Human Genetics Informing Drug Development in Cardiovascular Disease: Interleukin-6 Signaling as a Case Study.Circulation. Genomic and precision medicine · 2025Review
- A Phenome-Wide association study (PheWAS) of genetic risk for C-reactive protein in children of European Ancestry: Results from the ABCD study.Brain, behavior, and immunity · 2025Article
- Absence of nonfatal suicidal behavior preceding suicide death reveals differences in clinical risks.Psychiatry research · 2025Article
- Genetic Loci Influencing Cue-Reactivity in Heterogeneous Stock Rats.Genes, brain, and behavior · 2025Article
- A roadmap to precision medicine through post-genomic electronic medical records.Nature communications · 2025Review
- Leveraging pleiotropy for the improved treatment of psychiatric disorders.Molecular psychiatry · 2025Review
101 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
No grant is acknowledged in the PubMed record.
Abstract
Advances in genotyping technology have, over the past decade, enabled the focused search for common genetic variation associated with human diseases and traits. With the recently increased availability of detailed phenotypic data from electronic health records and epidemiological studies, the impact of one or more genetic variants on the phenome is starting to be characterized both in clinical and population-based settings using phenome-wide association studies (PheWAS). These studies reveal a number of challenges that will need to be overcome to unlock the full potential of PheWAS for the characterization of the complex human genome-phenome relationship.
Indexed as
Identifiers
26875678What OpenQuestion holds
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.