Open Access Database of Genome-wide Association Results
Author Information
Author(s): Andrew D Johnson, Christopher J O'Donnell
Primary Institution: National Heart, Lung, and Blood Institute
Hypothesis
The study aims to create a centralized database of significant published GWAS results to facilitate further research.
Conclusion
The study provides access to a comprehensive gene-annotated GWAS database that can be used for further analyses and integration with other genomic information.
Supporting Evidence
- Using a genomic bin-based density analysis, positive control loci were detected with high sensitivity.
- 40% of reported associated SNPs lie within the boundaries of a RefSeq gene.
- Genes relating to cell adhesion functions were highly over-represented among significant associations.
Takeaway
The researchers made a big database that collects important genetic information from many studies, which can help scientists learn more about diseases.
Methodology
The study collected results from 118 GWAS articles, creating a database of 56,411 significant SNP-phenotype associations.
Potential Biases
Some GWAS chose not to release results, leading to potential biases in the available data.
Limitations
There is substantial heterogeneity in the completeness and annotation of reported GWAS results.
Participant Demographics
The study includes data from diverse populations but does not specify detailed demographics.
Statistical Information
P-Value
p < 0.001
Statistical Significance
p < 4.6 × 10-14
Digital Object Identifier (DOI)
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