ArticleNature genetics2018
Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits.
Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers, 12 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
185 citing papers in PubMed, 12 syntheses or guidelines pooled it.
- Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.Nature genetics · 2024Pooled it
- Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population.Nature communications · 2023Pooled it
- Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals.Nature genetics · 2023Pooled it
- Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.Nature genetics · 2023Pooled it
- Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested case-control study and meta-analysis.Scientific reports · 2022Pooled it
- Understanding the comorbidity between posttraumatic stress severity and coronary artery disease using genome-wide information and electronic health records.Molecular psychiatry · 2022Pooled it
- Genome-wide meta-analysis of alcohol use disorder in East Asians.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022Pooled it
- Reconstructing SNP allele and genotype frequencies from GWAS summary statistics.Scientific reports · 2022Pooled it
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.Communications biology · 2021Pooled it
- Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.Nature genetics · 2020Pooled it
- Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.Nature genetics · 2020Pooled it
- Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.Nature communications · 2018Pooled it
- 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
- Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection.Nature genetics · 2026Article
- Distinguishing different psychiatric disorders using DDx-PRS.Nature genetics · 2026Article
- Constructing Genetic Risk Scores: Robust Bayesian Approach through Projected Summary Statistics and Flexible Shrinkage.Journal of the American Statistical Association · 2026Article
- DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations.American journal of human genetics · 2026Article
- Predicting accumulation and age at onset of amyloid-β from genetic risk and resilience for Alzheimer's disease.EBioMedicine · 2026Article
- Article
- Principled measures and estimates of trait polygenicity.American journal of human genetics · 2026Article
125 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We developed a likelihood-based approach for analyzing summary-level statistics and external linkage disequilibrium information to estimate effect-size distributions of common variants, characterized by the proportion of underlying susceptibility SNPs and a flexible normal-mixture model for their effects. Analysis of results available across 32 genome-wide association studies showed that, while all traits are highly polygenic, there is wide diversity in the degree and nature of polygenicity. Psychiatric diseases and traits related to mental health and ability appear to be most polygenic, involving a continuum of small effects. Most other traits, including major chronic diseases, involve clusters of SNPs that have distinct magnitudes of effects. We predict that the sample sizes needed to identify SNPs that explain most heritability found in genome-wide association studies will range from a few hundred thousand to multiple millions, depending on the underlying effect-size distributions of the traits. Accordingly, we project the risk-prediction ability of polygenic risk scores across a wide variety of diseases.
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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.