ArticleAmerican journal of human genetics2020
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 5 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 5 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies.Nature genetics · 2025Pooled it
- Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.Nature genetics · 2025Pooled it
- Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.Human molecular genetics · 2022Pooled it
- Variance-component-based meta-analysis of gene-environment interactions for rare variants.G3 (Bethesda, Md.) · 2021Pooled it
- Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.Nature genetics · 2020Pooled it
- Pharmacogenetic Predictors of Chemotherapy Treatment-Related Toxicities in Paediatric and Adolescent Acute Lymphoblastic Leukemia: A Systematic Review, Meta-Analysis and Literature-Based Candidate Prioritization.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Large-scale proteomic analyses before depression diagnosis reveal novel pathophysiological insights.Molecular psychiatry · 2026Article
- Whole-exome sequencing and burden analysis identify six novel candidate risk genes and expand the genetic landscape of Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses.JAMA oncology · 2025Article
- Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China.Molecular biomedicine · 2025Article
- Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.Birth defects research · 2025Article
- Empowering genome-wide association studies via a visualizable test based on the regional association score.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The Role ofmedRxiv : the preprint server for health sciences · 2025Article
- PWAS Hub for exploring gene-based associations of common complex diseases.Genome research · 2024Article
- Rare coding variant analysis for human diseases across biobanks and ancestries.Nature genetics · 2024Article
- Bootstrap Evaluation of Association Matrices (BEAM) for Integrating Multiple Omics Profiles with Multiple Outcomes.bioRxiv : the preprint server for biology · 2024Article
- Article
- Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.Nature genetics · 2024Article
- The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.Genome medicine · 2024Article
- Integration of whole-exome sequencing and structural neuroimaging analysis in major depressive disorder: a joint study.Translational psychiatry · 2024Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
In biobank data analysis, most binary phenotypes have unbalanced case-control ratios, and this can cause inflation of type I error rates. Recently, a saddle point approximation (SPA) based single-variant test has been developed to provide an accurate and scalable method to test for associations of such phenotypes. For gene- or region-based multiple-variant tests, a few methods exist that can adjust for unbalanced case-control ratios; however, these methods are either less accurate when case-control ratios are extremely unbalanced or not scalable for large data analyses. To address these problems, we propose SKAT- and SKAT-O- type region-based tests; in these tests, the single-variant score statistic is calibrated based on SPA and efficient resampling (ER). Through simulation studies, we show that the proposed method provides well-calibrated p values. In contrast, when the case-control ratio is 1:99, the unadjusted approach has greatly inflated type I error rates (90 times that of exome-wide sequencing α = 2.5 × 10
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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.