ArticleNucleic acids research2024
RAVAR: a curated repository for rare variant-trait associations.
Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders.International journal of molecular sciences · 2026Article
- Common and rare genetic variants show network convergence for a majority of human traits.EMBO reports · 2026Article
- ASTWAS: modeling alternative polyadenylation and SNP effects in kernel-driven TWAS reveal novel genetic associations for complex traits.Briefings in bioinformatics · 2026Article
- Prioritizing missense mutations via a deep learning phosphorylation prediction model.Human genomics · 2025Article
- Development of a genetic priority score to predict drug side effects using human genetic evidence.Nature communications · 2025Article
- Comprehensive molecular impact mapping of common and rare variants at GWAS loci.bioRxiv : the preprint server for biology · 2025Article
- lncRNA localization and feature interpretability analysis.Molecular therapy. Nucleic acids · 2025Article
- A comprehensive review of deep learning-based approaches for drug-drug interaction prediction.Briefings in functional genomics · 2025Review
- Human essential gene identification based on feature fusion and feature screening.IET systems biology · 2024Article
- Excavation of gene markers associated with pancreatic ductal adenocarcinoma based on interrelationships of gene expression.IET systems biology · 2024Article
- iNP_ESM: Neuropeptide Identification Based on Evolutionary Scale Modeling and Unified Representation Embedding Features.International journal of molecular sciences · 2024Article
- DiSMVC: a multi-view graph collaborative learning framework for measuring disease similarity.Bioinformatics (Oxford, England) · 2024Article
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Authors and funding
14 authors.
Funding
Abstract
Rare variants contribute significantly to the genetic causes of complex traits, as they can have much larger effects than common variants and account for much of the missing heritability in genome-wide association studies. The emergence of UK Biobank scale datasets and accurate gene-level rare variant-trait association testing methods have dramatically increased the number of rare variant associations that have been detected. However, no systematic collection of these associations has been carried out to date, especially at the gene level. To address the issue, we present the Rare Variant Association Repository (RAVAR), a comprehensive collection of rare variant associations. RAVAR includes 95 047 high-quality rare variant associations (76186 gene-level and 18 861 variant-level associations) for 4429 reported traits which are manually curated from 245 publications. RAVAR is the first resource to collect and curate published rare variant associations in an interactive web interface with integrated visualization, search, and download features. Detailed gene and SNP information are provided for each association, and users can conveniently search for related studies by exploring the EFO tree structure and interactive Manhattan plots. RAVAR could vastly improve the accessibility of rare variant studies. RAVAR is freely available for all users without login requirement at http://www.ravar.bio.
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