ArticleNature communications2021
Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Meta-evolutionary exome analysis identifies novel type 2 diabetes mellitus genes in the UK Biobank and all of us.PLoS genetics · 2025Pooled it
- The polygenic, omnigenic and stratagenic models of complex disease risk.Nature genetics · 2026Review
- Improving performance of polygenic risk scores for hypertension across two ancestry groups.PloS one · 2026Article
- Article
- Improving performance of polygenic risk scores for hypertension across two ancestry groups.medRxiv : the preprint server for health sciences · 2025Article
- Evaluation of genomic selection models using whole genome sequence data and functional annotation in Belgian Blue cattle.Genetics, selection, evolution : GSE · 2025Article
- Genomic Landscape and Prediction of Udder Traits in Saanen Dairy Goats.Animals : an open access journal from MDPI · 2025Article
- Quantitative omnigenic model discovers interpretable genome-wide associations.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Evaluation of heritability partitioning approaches in livestock populations.BMC genomics · 2024Article
- Improving the accuracy of genomic prediction in dairy cattle using the biologically annotated neural networks framework.Journal of animal science and biotechnology · 2024Article
- Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries.Nature genetics · 2024Article
- Polygenic risk scores for cervical HPV infection, neoplasia and cancer show potential for personalised screening: comparison of two methods.Infectious agents and cancer · 2023Article
- Gene expression and RNA splicing explain large proportions of the heritability for complex traits in cattle.Cell genomics · 2023Article
- Genetic insights into the age-specific biological mechanisms governing human ovarian aging.American journal of human genetics · 2023Article
- Polygenic Risk Score Predicts Modified Risk inCancers · 2023Article
- Liability-scale heritability estimation for biobank studies of low-prevalence disease.American journal of human genetics · 2022Article
- Article
- Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.Human genomics · 2022Article
- Improving GWAS discovery and genomic prediction accuracy in biobank data.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Blood-based epigenome-wide analyses of cognitive abilities.Genome biology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 6 institutions in 5 countries.
Funding
Abstract
We develop a Bayesian model (BayesRR-RC) that provides robust SNP-heritability estimation, an alternative to marker discovery, and accurate genomic prediction, taking 22 seconds per iteration to estimate 8.4 million SNP-effects and 78 SNP-heritability parameters in the UK Biobank. We find that only ≤10% of the genetic variation captured for height, body mass index, cardiovascular disease, and type 2 diabetes is attributable to proximal regulatory regions within 10kb upstream of genes, while 12-25% is attributed to coding regions, 32-44% to introns, and 22-28% to distal 10-500kb upstream regions. Up to 24% of all cis and coding regions of each chromosome are associated with each trait, with over 3,100 independent exonic and intronic regions and over 5,400 independent regulatory regions having ≥95% probability of contributing ≥0.001% to the genetic variance of these four traits. Our open-source software (GMRM) provides a scalable alternative to current approaches for biobank data.
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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.