The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
GRASP: analysis of genotype–phenotype results from 1390 genome-wide association studies and corresponding open access database
Open accessAbstract
Summary: We created a deeply extracted and annotated database of genome-wide association studies (GWAS) results. GRASP v1.0 contains >6.2 million SNP-phenotype association from among 1390 GWAS studies. We re-annotated GWAS results with 16 annotation sources including some rarely compared to GWAS results (e.g. RNAediting sites, lincRNAs, PTMs). Motivation: To create a high-quality resource to facilitate further use and interpretation of human GWAS results in order to address important scientific questions. Results: GWAS have grown exponentially, with increases in sample sizes and markers tested, and continuing bias toward European ancestry samples. GRASP contains >100 000 phenotypes, roughly: eQTLs (71.5%), metabolite QTLs (21.2%), methylation QTLs (4.4%) and diseases, biomarkers and other traits (2.8%). cis-eQTLs, meQTLs, mQTLs and MHC region SNPs are highly enriched among significant results. After removing these categories, GRASP still contains a greater proportion of studies and results than comparable GWAS catalogs. Cardiovascular disease and related risk factors pre-dominate remaining GWAS results, followed by immunological, neurological and cancer traits. Significant results in GWAS display a highly gene-centric tendency. Sex chromosome X (OR = 0.18[0.16-0.20]) and Y (OR = 0.003[0.001-0.01]) genes are depleted for GWAS results. Gene length is correlated with GWAS results at nominal significance (P ≤ 0.05) levels. We show this gene-length correlation decays at increasingly more stringent P-value thresholds. Potential pleotropic genes and SNPs enriched for multi-phenotype association in GWAS are identified. However, we note possible population stratification at some of these loci. Finally, via re-annotation we identify compelling functional hypotheses at GWAS loci, in some cases unrealized in studies to date. Conclusion: Pooling summary-level GWAS results and re-annotating with bioinformatics predictions and molecular features provides a good platform for new insights. Availability: The GRASP database is available at http://apps.nhlbi.nih.gov/grasp. Contact: johnsonad2@nhlbi.nih.gov
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Metadata
- Authors
- Leslie, R., O’Donnell, C. J., & Johnson, A. D.
- Venue
- Bioinformatics
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-06-11
- Volume
- 30
- Issue
- 12
- Pages
- i185-i194
- ISSN
- 1367-4803 (ISSN-L)
- 1367-4811
- OpenAlex
- W2077318478
- Cited by
- 254
- References
- 11
- FWCI
- 15.26
- Type
- journal article
- Language
- en
- Open access
- green
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