ReviewAmerican journal of human genetics2012
Five years of GWAS discovery.
Review in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,242 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
1,242 citing papers in PubMed, 4 syntheses or guidelines pooled it, 2,534 citations in OpenAlex.
- A systematic review of GWAS on CMR imaging traits: genetic insights into cardiovascular structure, function, and diseases.EBioMedicine · 2025Pooled it
- Pooled it
- Association between human herpesviruses infections and childhood neurodevelopmental disorders: insights from two-sample mendelian randomization analyses and systematic review with meta-analysis.Italian journal of pediatrics · 2024Pooled it
- The genetic landscape of neuro-related proteins in human plasma.Nature human behaviour · 2024Pooled it
- Schoolhouse risk: Can we mitigate the polygenic Pygmalion effect?Acta psychologica · 2024Trial
- UnlockingNAR genomics and bioinformatics · 2026Article
- Machine learning methodology using a masked neural network for robust genetic risk score calculation from noisy and missing data.Briefings in bioinformatics · 2026Article
- Genome-Wide Risk Assessment and Clinical Prediction of Iodinated Contrast Media-Induced Anaphylaxis.Allergy, asthma & immunology research · 2026Article
- AKR7A3 rs1738023 association with susceptibility to female hepatocellular carcinoma and its role in AFB1 metabolism and tumor.Discover oncology · 2026Article
- In Situ GWAS in Two Range-Edge Populations of European Beech (Fagus sylvatica L.) Identify Genetic Factors of Adaptation to Climate Change.Molecular ecology · 2026Article
- A combined study of whole-exome sequencing and structural neuroimaging markers in bipolar disorder.Translational psychiatry · 2026Article
- Robustly enhancing crop genomic prediction accuracy through ensemble learning and iterative optimization.Nature communications · 2026Article
- Polygenic risk scores: en route to clinical practice.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Decoding the Genetic Basis of Salinity Tolerance at Germination and Seedling Traits in HEB-25 Barley NAM Population.Plants (Basel, Switzerland) · 2026Article
- Review
- High-resolution genotype-free mapping of genetic variation with CRI-SPA-Map.Genome research · 2026Article
- Multiscale Cortical Remodeling Following Abrupt Visual Deafferentation in Rhegmatogenous Retinal Detachment: Imaging Transcriptomics and Neurotransmitter Mapping.CNS neuroscience & therapeutics · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Beyond Mendel: a call to revisit the genotype-phenotype map through new experimental paradigms.Genetics · 2026Article
- GAMMA-RAY: A Fully Automated and Rapid System for High-Dimensional Multi-Phenotype Analysis Considering Population Structure.Biology · 2026Article
1,182 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
4 authors at 3 institutions in 2 countries.
Funding
Abstract
The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs). These studies were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide polymorphisms (SNPs) and common diseases such as heart disease, diabetes, auto-immune diseases, and psychiatric disorders. We start by giving a number of quotes from scientists and journalists about perceived problems with GWASs. We will then briefly give the history of GWASs and focus on the discoveries made through this experimental design, what those discoveries tell us and do not tell us about the genetics and biology of complex traits, and what immediate utility has come out of these studies. Rather than giving an exhaustive review of all reported findings for all diseases and other complex traits, we focus on the results for auto-immune diseases and metabolic diseases. We return to the perceived failure or disappointment about GWASs in the concluding section.
Indexed as
Identifiers
What 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.