SynthesisNature communications2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Synthesis in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 3 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
82 citing papers in PubMed, 3 syntheses or guidelines pooled it, 142 citations in OpenAlex.
- Kernel-based gene-environment interaction tests for rare variants with multiple quantitative phenotypes.PloS one · 2022Pooled it
- Variance-component-based meta-analysis of gene-environment interactions for rare variants.G3 (Bethesda, Md.) · 2021Pooled it
- Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.Human mutation · 2021Pooled it
- HLA and non-HLA genetic analyses reveal suggestive variants associated with statin-induced liver injury.Hepatology communications · 2026Article
- Integrative exome sequencing and multi-omics analysis elucidates the regulatory role of rare variants in metabolic syndrome.Functional & integrative genomics · 2026Article
- Clonal haematopoiesis and risk of incident rheumatoid arthritis: results from the UK Biobank.Clinical and experimental rheumatology · 2026Article
- Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.American journal of human genetics · 2026Article
- Clade distillation for genome-wide association studies.Genetics · 2026Article
- Evaluating the effects of archaic protein-altering variants in living human adults.Science advances · 2025Article
- Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.Circulation. Genomic and precision medicine · 2025Article
- A scalable framework for identifying allelic series from summary statistics.American journal of human genetics · 2025Article
- Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort.JACC. Basic to translational science · 2025Article
- Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.HGG advances · 2025Article
- Preclinical Models to Study the Molecular Pathophysiology of Meniere's Disease: A Pathway to Gene Therapy.Journal of clinical medicine · 2025Article
- Red Blood Cell-Related Phenotype-Genotype Correlations in Chronic and Acute Critical Illnesses (Traumatic Brain Injury Cohort and COVID-19 Cohort).International journal of molecular sciences · 2025Article
- Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.Nature genetics · 2024Article
- Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.Communications medicine · 2024Article
- MGA loss-of-function variants cause premature ovarian insufficiency.The Journal of clinical investigation · 2024Article
- A scalable adaptive quadratic kernel method for interpretable epistasis analysis in complex traits.Genome research · 2024Article
- Regionally enriched rare deleterious exonic variants in the UK and Ireland.Nature communications · 2024Article
22 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
13 authors at 2 institutions in 1 country.
Funding
Abstract
Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960 exome-sequenced individuals from the UK Biobank and 1934 phenotypes (1821 overlapping with UK Biobank) in 21,866 members of the Healthy Nevada Project (HNP) cohort who underwent Exome + sequencing at Helix. After using our rare-variant-tailored methodology to reduce test statistic inflation, we identify 64 statistically significant gene-based associations in our meta-analysis of the two cohorts and 37 for phenotypes available in only one cohort. Singletons make significant contributions to our results, and the vast majority of the associations could not have been identified with a genotyping chip. Our results are available for interactive browsing in a webapp (https://ukb.research.helix.com). This comprehensive analysis illustrates the biological value of large, deeply phenotyped cohorts of unselected populations coupled with NGS data.
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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.