ReviewGenome medicine2020
Polygenic risk scores: from research tools to clinical instruments.
Review in Genome medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 780 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
780 citing papers in PubMed, 2 syntheses or guidelines pooled it, 1,400 citations in OpenAlex.
- Global trajectories of polygenic risk score research: a systematic bibliometric review of precision medicine, equity, and clinical translation.Frontiers in medicine · 2026Pooled it
- Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations.American journal of human genetics · 2025Pooled it
- Evaluating the impact of communicating high polygenic risk for coronary artery disease on the health behaviour of young overweight adults: a pragmatic randomised controlled trial.Scientific reports · 2026Trial
- Transcriptome-wide association analysis of Alzheimer's disease: construction and clinical validation of transcriptomic risk scores.European archives of psychiatry and clinical neuroscience · 2026Article
- Big data and psychiatry: advances, constraints and future directions.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026Article
- Personalized single-cell transcriptomics reveals molecular diversity in Alzheimer's disease.Nature communications · 2026Article
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- GeneSIS: enhancing transferability of polygenic scores with variant-level gene-by-sex interaction effects.bioRxiv : the preprint server for biology · 2026Article
- Early-childhood temperament trajectories map onto transdiagnostic psychiatric risk.Molecular psychiatry · 2026Article
- Recent Advances in Caries Prevention and Non-Invasive Management: From Ecological Modulation to Precision Interventions.Dentistry journal · 2026Review
- Clinical-genetic predisposition and medium-term outcomes after bariatric surgery: A 5-year validation of the OBEGEN score.Obesity pillars · 2026Article
- Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.European journal of human genetics : EJHG · 2026Article
- From adolescence to Alzheimer's: a neurodevelopmental lifespan model of cognitive vulnerability.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder.Research square · 2026Article
- Psychosis Polyrisk Score and Polygenic Risk Score to Improve Detection and Prognosis in Individuals at Clinical High Risk for Psychosis: Model Development and Internal Validation.Schizophrenia bulletin · 2026Article
- Maternal genetic liability to autism spectrum disorders and pregnancy outcomes.Archives of women's mental health · 2026Article
- Mechanisms and therapeutic strategies of asthma: from bench to bedside.Signal transduction and targeted therapy · 2026Review
- Polygenic Risk Score for Adult Idiopathic Hydrocele Testis: Susceptibility and Severity in a Japanese Cohort.International journal of molecular sciences · 2026Article
- Integrated Analysis of SNPs and Structural Variations via High-depth Whole-genome Sequencing Reveals the Genetic Architecture and Optimizes Genomic Prediction in Chickens.Poultry science · 2026Article
- Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
720 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
2 authors at 1 institution in 1 country.
Funding
Abstract
Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual's susceptibility to diseases. Polygenic risk scores have been widely applied in research studies, confirming the association between the scores and disease status, but their clinical utility has yet to be established. Polygenic risk scores may be used to estimate an individual's lifetime genetic risk of disease, but the current discriminative ability is low in the general population. Clinical implementation of polygenic risk score (PRS) may be useful in cohorts where there is a higher prior probability of disease, for example, in early stages of diseases to assist in diagnosis or to inform treatment choices. Important considerations are the weaker evidence base in application to non-European ancestry and the challenges in translating an individual's PRS from a percentile of a normal distribution to a lifetime disease risk. In this review, we consider how PRS may be informative at different points in the disease trajectory giving examples of progress in the field and discussing obstacles that need to be addressed before clinical implementation.
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What Socratic 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 Socratic graph.