ReviewScience (New York, N.Y.)2021
Discovery and implications of polygenicity of common diseases.
Review in Science (New York, N.Y.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 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
104 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Correcting for Genomic Inflation Leads to Loss of Power in Large-Scale Genome-Wide Association Study Meta-Analysis.Genetic epidemiology · 2025Pooled it
- A Systematic Review on the Genetic Contribution to Tinnitus.Journal of the Association for Research in Otolaryngology : JARO · 2024Pooled it
- Trial
- Childhood Correlates of Genetic Propensity to Personality Traits.medRxiv : the preprint server for health sciences · 2026Article
- In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.Human molecular genetics · 2026Article
- Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision-Making and Polygenic Embryo Screening.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Functional annotation of non-coding variants identifies a novel enhancer with activity in neural crest cell-derived lineages.Research square · 2026Article
- Principled measures and estimates of trait polygenicity.American journal of human genetics · 2026Article
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- Genetic perspectives on the comorbidity of anxiety and mood disorders with cardiovascular disease.Nature cardiovascular research · 2026Review
- Article
- Evaluation of Genetics in the Association Between Cardiorespiratory Fitness and Health: Insights from a Genome-Wide Polygenic Score for Cardiorespiratory Fitness in the FinnGen and HUNT cohorts.Scandinavian journal of medicine & science in sports · 2026Article
- Article
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- keju: powerful and accurate inference in Massively Parallel Reporter Assays.bioRxiv : the preprint server for biology · 2026Article
- Polygenic backgrounds influence phenotypic consequences of variants in cells, individuals, and populations.Cell genomics · 2026Review
- The polygenic, omnigenic and stratagenic models of complex disease risk.Nature genetics · 2026Review
- Genetic Burden andJournal of personalized medicine · 2026Article
- Comprehensive benchmarking single and multi ancestry polygenic score methods with the PGS-hub platform.Nature communications · 2026Article
44 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.
Funding
Abstract
The sequencing of the human genome has allowed the study of the genetic architecture of common diseases: the number of genomic variants that contribute to risk of disease and their joint frequency and effect size distribution. Common diseases are polygenic, with many loci contributing to phenotype, and the cumulative burden of risk alleles determines individual risk in conjunction with environmental factors. Most risk loci occur in noncoding regions of the genome regulating cell- and context-specific gene expression. Although the effect sizes of most risk alleles are small, their cumulative effects in individuals, quantified as a polygenic (risk) score, can identify people at increased risk of disease, thereby facilitating prevention or early intervention.
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.