ArticleNature communications2021
Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.
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 27 papers.
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Who cites it
27 citing papers in PubMed, 33 citations in OpenAlex.
- Rare variant effect estimation and polygenic risk prediction.Nature genetics · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Studying rare variant polygenic risk scores using whole exome sequencing and imputed genotype data.Communications biology · 2025Article
- Impact of Genetic Risk Factors on Coronary Heart Disease Risk Across the Age Spectrum in Three Major Race/Ethnicity Groups in the United States.medRxiv : the preprint server for health sciences · 2025Article
- Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer's disease comorbidities.Scientific reports · 2025Article
- The role of complement factor I rare genetic variants in age related macular degeneration in Finland.Human molecular genetics · 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
- Review
- Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.The Journal of biological chemistry · 2024Article
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.Genome medicine · 2024Review
- A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.NPJ genomic medicine · 2024Article
- Principles and methods for transferring polygenic risk scores across global populations.Nature reviews. Genetics · 2024Review
- Exome functional risk score and brain connectivity can predict social adaptability outcome of children with autism spectrum disorder in 4 years' follow up.Frontiers in psychiatry · 2024Article
- How to translate genetic findings into clinical applications in spondyloarthritis?Frontiers in immunology · 2024Review
- Rare Variants in Primary Immunodeficiency Genes and Their Functional Partners in Severe COVID-19.Biomolecules · 2023Article
- Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: AnInternational journal of molecular sciences · 2023Article
- Bayesian linear mixed model with multiple random effects for family-based genetic studies.Frontiers in genetics · 2023Article
- Phenotypes associated with genetic determinants of type I interferon regulation in the UK Biobank: a protocol.Wellcome open research · 2023Article
- Opportunities and challenges for the use of common controls in sequencing studies.Nature reviews. Genetics · 2022Review
- Integration of rare expression outlier-associated variants improves polygenic risk prediction.American journal of human genetics · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Rare variants are collectively numerous and may underlie a considerable proportion of complex disease risk. However, identifying genuine rare variant associations is challenging due to small effect sizes, presence of technical artefacts, and heterogeneity in population structure. We hypothesize that rare variant burden over a large number of genes can be combined into a predictive rare variant genetic risk score (RVGRS). We propose a method (RV-EXCALIBER) that leverages summary-level data from a large public exome sequencing database (gnomAD) as controls and robustly calibrates rare variant burden to account for the aforementioned biases. A calibrated RVGRS strongly associates with coronary artery disease (CAD) in European and South Asian populations by capturing the aggregate effect of rare variants through a polygenic model of inheritance. The RVGRS identifies 1.5% of the population with substantial risk of early CAD and confers risk even when adjusting for known Mendelian CAD genes, clinical risk factors, and a common variant genetic risk score.
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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.