ReviewTrends in genetics : TIG2021
Genetic prediction of complex traits with polygenic scores: a statistical review.
Review in Trends in genetics : TIG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 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
85 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Polygenic Risk Scores for Myopia: A Systematic Review of Predictive Performance and Clinical Potential.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2026Pooled it
- Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks.PLoS genetics · 2023Pooled it
- Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.Genome medicine · 2023Pooled it
- Genome-Wide Association Analysis and Genomic Prediction of Thyroglobulin Plasma Levels.International journal of molecular sciences · 2022Pooled it
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Multi-threshold polygenic risk improves hippocampal-based cognitive decline prediction.Genome medicine · 2026Article
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.American journal of human genetics · 2026Article
- Bridging ancestry gaps in genomic risk prediction with tabular foundation models.Bioinformatics (Oxford, England) · 2026Article
- Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.Genome research · 2026Article
- Bridging Ancestry Gaps in Genomic Risk Prediction with Tabular Foundation Models.bioRxiv : the preprint server for biology · 2026Article
- Data Representation Bias and Conditional Distribution Shift Drive Predictive Performance Disparities in Multi-Population Machine Learning.bioRxiv : the preprint server for biology · 2026Article
- Calibrated Prediction Intervals for Polygenic Scores: Updated Comparisons, Contextual Calibration, and Data Normalization.medRxiv : the preprint server for health sciences · 2026Article
- Integrating network annotation from multiple correlated traits to improve polygenic risk scores based on GWAS summary statistics.Research square · 2026Article
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- Partitioned polygenic scores show mechanistic heterogeneity in type 2 diabetes and hypertension comorbidity.Nature communications · 2026Article
- The Spanish Polygenic Score reference distribution: a resource for personalized medicine.European journal of human genetics : EJHG · 2026Article
- Comprehensive benchmarking single and multi ancestry polygenic score methods with the PGS-hub platform.Nature communications · 2026Article
- Physiological determinants of heterosis in hybrid rice (Frontiers in plant science · 2026Article
- Exploration of the causal relationship between inflammatory cytokines and type 2 diabetes via mendelian randomization and polygenic score.Frontiers in immunology · 2026Article
- Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.medRxiv : the preprint server for health sciences · 2025Article
25 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.
Funding
Abstract
Accurate genetic prediction of complex traits can facilitate disease screening, improve early intervention, and aid in the development of personalized medicine. Genetic prediction of complex traits requires the development of statistical methods that can properly model polygenic architecture and construct a polygenic score (PGS). We present a comprehensive review of 46 methods for PGS construction. We connect the majority of these methods through a multiple linear regression framework which can be instrumental for understanding their prediction performance for traits with distinct genetic architectures. We discuss the practical considerations of PGS analysis as well as challenges and future directions of PGS method development. We hope our review serves as a useful reference both for statistical geneticists who develop PGS methods and for data analysts who perform PGS analysis.
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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.