ReviewNature reviews. Genetics2012
Rare and common variants: twenty arguments.
Review in Nature reviews. Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 612 papers, 5 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.
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
612 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.International journal of molecular sciences · 2024Pooled it
- Association of serotonin receptor gene polymorphisms with anorexia nervosa: a systematic review and meta-analysis.Eating and weight disorders : EWD · 2024Pooled it
- Pooled it
- Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.Translational psychiatry · 2020Pooled it
- Trial
- Rare variant effect estimation and polygenic risk prediction.Nature genetics · 2026Article
- Integrating genomic additive relationship matrices improves the efficiency in diploid banana breeding.Horticulture research · 2026Article
- Massively parallel characterization and predictive modelling of neuronal regulatory variation.bioRxiv : the preprint server for biology · 2026Article
- UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.Genome biology · 2026Article
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.American journal of human genetics · 2026Article
- The hidden geometry of breeding constraints.Nature plants · 2026Review
- Rare Coding Variants Reveal Distinct Genetic Architectures Across Multidimensional Sleep Phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Reply: neutral transcriptome rewiring promotes quantitative disease resistance evolvability at the species level.The Plant cell · 2026Article
- Nonlinear kernel-based high-dimensional inference for set-based genetic association studies.Briefings in bioinformatics · 2026Article
- A prototype-augmented graph representation learning framework for identifying brain disorder-associated genes and facilitating drug repurposing.PLoS computational biology · 2026Article
- Beyond Mendel: a call to revisit the genotype-phenotype map through new experimental paradigms.Genetics · 2026Article
- Variant Prioritization by Pedigree-Based Haplotyping.Genetic epidemiology · 2026Article
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk.Pediatric blood & cancer · 2026Article
552 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
1 author.
Funding
Abstract
Genome-wide association studies have greatly improved our understanding of the genetic basis of disease risk. The fact that they tend not to identify more than a fraction of the specific causal loci has led to divergence of opinion over whether most of the variance is hidden as numerous rare variants of large effect or as common variants of very small effect. Here I review 20 arguments for and against each of these models of the genetic basis of complex traits and conclude that both classes of effect can be readily reconciled.
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.