ArticleNature genetics2021
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 205 papers, 13 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
205 citing papers in PubMed, 13 syntheses or guidelines pooled it, 354 citations in OpenAlex.
- Genetic evidence of the causal relationship between genetically predicted nutrients and psoriatic arthritis.Clinical rheumatology · 2026Pooled it
- Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.Nature communications · 2025Pooled it
- Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank.Nature communications · 2025Pooled it
- Serum liver enzymes and risk of stroke: Systematic review with meta-analyses and Mendelian randomization studies.European journal of neurology · 2024Pooled it
- Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.Nature communications · 2024Pooled it
- Identification of risk loci for postpartum depression in a genome-wide association study.Psychiatry and clinical neurosciences · 2024Pooled it
- Lipid levels and multiple myeloma risk: insights from Meta-analysis and mendelian randomization.Lipids in health and disease · 2024Pooled it
- Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.The American journal of clinical nutrition · 2024Pooled it
- Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals.Drug and alcohol dependence · 2024Pooled it
- Epidemiological and Genetic Analyses of Schizophrenia and Breast Cancer.Schizophrenia bulletin · 2024Pooled it
- A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.Journal of hepatology · 2023Pooled it
- Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.Nature genetics · 2023Pooled it
- Expanded COVID-19 phenotype definitions reveal distinct patterns of genetic association and protective effects.Nature genetics · 2022Pooled it
- Novel associations of Claudin gene variants with kidney stone disease.Clinical kidney journal · 2026Article
- Genotype-Informed Characterization of Mild Renal Hypouricemia.Kidney international reports · 2026Article
- Polymorphic Variant Associated with Sex Hormone-Binding Globulin Level Is a Risk Factor for Preeclampsia.International journal of molecular sciences · 2026Article
- GeneSIS: enhancing transferability of polygenic scores with variant-level gene-by-sex interaction effects.bioRxiv : the preprint server for biology · 2026Article
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection.Nature genetics · 2026Article
145 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 at 1 institution in 1 country.
Funding
Abstract
Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the remainder of the cohort (total n ≈ 500,000) to impute exome-wide variants with accuracy R
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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.