Genebass: Gene-based association summary statistics
Overview
Genebass is a comprehensive public resource providing exome-based association statistics from the UK Biobank. It encompasses 281,852 individuals with exome sequence data analyzed across 3,817 phenotypes, offering both gene-based and single-variant association testing results. This resource enables large-scale genotype-phenotype association studies and supports research in human genetics, rare variant analysis, and precision medicine.
Data Content
Dataset Statistics
- Participants: 281,852 individuals with exome sequencing data
- Phenotypes: 3,817 phenotypes spanning diverse health conditions and traits
- Analysis Types: Gene-based tests and single-variant tests
- Coverage: Comprehensive exome-wide association testing
Phenotype Categories
- Quantitative traits (continuous measures)
- Binary traits (disease/control status)
- Clinical diagnoses from health records
- Laboratory measurements
- Anthropometric measurements
- Lifestyle and behavioral phenotypes
Key Features
- Gene-Based Testing: Aggregated variant-level statistics at the gene level
- Single-Variant Analysis: Individual variant association results
- Public Access: Freely available summary statistics
- Large Sample Size: Powered by 281K+ exome-sequenced individuals
- Diverse Phenotypes: Thousands of health-related traits
- UK Biobank Integration: Leverages extensive UK Biobank phenotypic data
Applications
Genetic Research
- Identifying disease-associated genes and variants
- Rare variant association studies
- Functional validation of genetic findings
- Cross-phenotype pleiotropy analysis
- Gene prioritization for experimental studies
Clinical Translation
- Precision medicine candidate discovery
- Risk prediction model development
- Understanding genetic architecture of diseases
- Drug target identification
- Pharmacogenomics research
Population Genetics
- Allele frequency estimation in diverse ancestries
- Selection signature detection
- Evolutionary constraint analysis
- Population-specific genetic associations
Access and Usage
- Web Interface: Interactive browser at https://genebass.org/
- Search Functionality: Query by gene, variant, or phenotype
- Download Options: Bulk download of summary statistics
- Visualization Tools: Built-in plotting and exploration features
- API Access: Programmatic data retrieval
Technical Details
Statistical Methods
- Gene-based burden tests
- SKAT-O (Sequence Kernel Association Test - Optimal)
- Single-variant logistic/linear regression
- Adjustment for covariates and population structure
- Summary statistics tables
- Effect sizes and standard errors
- P-values and confidence intervals
- Allele frequencies
- Sample sizes per analysis
This resource has the Information Resource identifier: infores:genebass
Citation
When using Genebass data, please cite the resource appropriately and acknowledge the UK Biobank.
For more information, visit https://genebass.org/