ArticleProceedings of the National Academy of Sciences of the United States of America2020
Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
97 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pharmacogenomic scores in psychiatry: systematic review of current evidence.Translational psychiatry · 2024Pooled it
- In the context of the triple burden of malnutrition: A systematic review of gene-diet interactions and nutritional status.Critical reviews in food science and nutrition · 2024Pooled it
- Pharmacogenomics polygenic risk score for drug response prediction using PRS-PGx methods.Nature communications · 2022Trial
- Perceptions of Polygenic Scores for Medical and Social Traits Among Biobank Participants and the Public.Biopreservation and biobanking · 2026Article
- Integrating multi-model GWAS prior information enhances genomic prediction of cold tolerance traits in Populus simonii.BMC plant biology · 2026Article
- An introduction to polygenic scores - methodological basics and recent advances.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- PROTOCOL: Utilisation of Genetics and Genomics in Primary Care: Protocol for an Evidence and Gap Map.Campbell systematic reviews · 2026Review
- Tissue-specific transfer learning improves functional variant and therapeutic target discoveries in breast and prostate cancer.PLoS genetics · 2026Article
- Graph statistics theory of individualized quantitative genetics under haplotype-resolved genome assembly.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Beyond Mendel: a call to revisit the genotype-phenotype map through new experimental paradigms.Genetics · 2026Article
- Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy.Health and technology · 2026Article
- Sharing approaches in predictive genomics across animals, plants and humans.Nature genetics · 2026Review
- A novel simulation tool for low-coverage whole-genome sequencing using multivariate Gaussian mixture models.BMC bioinformatics · 2026Article
- Polygenic backgrounds influence phenotypic consequences of variants in cells, individuals, and populations.Cell genomics · 2026Review
- Pooled extreme-phenotype genome-wide association study XP-GWAS reveals an association betweenPeerJ · 2026Article
- Estimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.Biochemical genetics · 2025Article
- Genome-Wide Characterization of a Carbon Ion Beam-Induced Soybean Mutant Population Reveals Extensive Genetic Variation for Trait Improvement.International journal of molecular sciences · 2025Article
- Article
- Comorbidity alters the genetic relationship between anxiety disorders and major depression.medRxiv : the preprint server for health sciences · 2025Article
37 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
The reconciliation between Mendelian inheritance of discrete traits and the genetically based correlation between relatives for quantitative traits was Fisher's infinitesimal model of a large number of genetic variants, each with very small effects, whose causal effects could not be individually identified. The development of genome-wide genetic association studies (GWAS) raised the hope that it would be possible to identify single polymorphic variants with identifiable functional effects on complex traits. It soon became clear that, with larger and larger GWAS on more and more complex traits, most of the significant associations had such small effects, that identifying their individual functional effects was essentially hopeless. Polygenic risk scores that provide an overall estimate of the genetic propensity to a trait at the individual level have been developed using GWAS data. These provide useful identification of groups of individuals with substantially increased risks, which can lead to recommendations of medical treatments or behavioral modifications to reduce risks. However, each such claim will require extensive investigation to justify its practical application. The challenge now is to use limited genetic association studies to find individually identifiable variants of significant functional effect that can help to understand the molecular basis of complex diseases and traits, and so lead to improved disease prevention and treatment. This can best be achieved by 1) the study of rare variants, often chosen by careful candidate assessment, and 2) the careful choice of phenotypes, often extremes of a quantitative variable, or traits with relatively high heritability.
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