ReviewNature protocols2020
Tutorial: a guide to performing polygenic risk score analyses.
Review in Nature protocols, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,165 papers, 5 of them syntheses that pooled it.
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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
1,165 citing papers in PubMed, 5 syntheses or guidelines pooled it, 1,959 citations in OpenAlex.
- Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations.Nature human behaviour · 2026Pooled it
- A multiancestry polygenic risk score improves stratification in patients with hypertrophic cardiomyopathy.Nature cardiovascular research · 2026Pooled it
- Genome-wide meta-analysis across East Asian and European populations provides insights into the molecular basis of lung cancer.Genome medicine · 2026Pooled it
- A multi-cohort assessment of the polygenic prediction in ADHD treatment response.Psychiatry research · 2026Pooled it
- The predictive value of polygenic risk scores for depression in gene-environment interaction studies: a systematic review.Translational psychiatry · 2026Pooled it
- Platelet count polygenic scores may modify the effect of aspirin in primary prevention of dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Trial
- Polygenic risk scores predict blood pressure changes independent of dietary intervention: a secondary analysis of the NUPRESS trial.European journal of nutrition · 2026Trial
- Disentangling direct and indirect genetic pathways to neurodevelopmental risk: brain structure and behavior in a population-based parent-offspring trio study.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Genetic and Clinical Determinants of Variation in Drug Response in Type 2 Diabetes: Insights From the Scottish and UK Biobank Cohorts.Diabetes, obesity & metabolism · 2026Article
- Unraveling the multifaceted relationship between creativity and mental health with longitudinal analyses of genotyped twins.Molecular psychiatry · 2026Article
- Polygenic risk score for early identification of coronary artery disease in a real-world clinical setting within the Latvian patient population.American heart journal plus : cardiology research and practice · 2026Article
- Association of the sarcopenia index based on the serum creatinine to cystatin C ratio and genetic risk with venous thromboembolism: a population-based cohort study.Research and practice in thrombosis and haemostasis · 2026Article
- Using Polygenic Risk Scores to Refine Risk and Outcomes in High-grade Serous Ovarian Cancer in Australia.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Role of Polygenic Risk Scores in Predicting Cognitive Functioning after Mild Traumatic Brain Injury: A TRACK-TBI Study.Journal of neurotrauma · 2026Article
- Maternal and offspring genome-wide association study of C-reactive protein reveals limited polygenic association with gestational diabetes mellitus.BMC genomics · 2026Article
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- Early-childhood temperament trajectories map onto transdiagnostic psychiatric risk.Molecular psychiatry · 2026Article
- Genetic architectures of brain-related traits are shaped by strong selective constraints.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Polygenic risk score for neurodevelopmental disorders and cognitive impairment at long-term follow-up of first-episode psychosis.European archives of psychiatry and clinical neuroscience · 2026Article
- Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression.Nature communications · 2026Article
1,105 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 at 3 institutions in 3 countries.
Funding
Abstract
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study (GWAS) data. While present PRSs typically explain only a small fraction of trait variance, their correlation with the single largest contributor to phenotypic variation-genetic liability-has led to the routine application of PRSs across biomedical research. Among a range of applications, PRSs are exploited to assess shared etiology between phenotypes, to evaluate the clinical utility of genetic data for complex disease and as part of experimental studies in which, for example, experiments are performed that compare outcomes (e.g., gene expression and cellular response to treatment) between individuals with low and high PRS values. As GWAS sample sizes increase and PRSs become more powerful, PRSs are set to play a key role in research and stratified medicine. However, despite the importance and growing application of PRSs, there are limited guidelines for performing PRS analyses, which can lead to inconsistency between studies and misinterpretation of results. Here, we provide detailed guidelines for performing and interpreting PRS analyses. We outline standard quality control steps, discuss different methods for the calculation of PRSs, provide an introductory online tutorial, highlight common misconceptions relating to PRS results, offer recommendations for best practice and discuss future challenges.
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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.