GWAS Central has released over 200 additional GWAS.
Author Archives: rkh7
GWAS Central Study database release 11 is released 5th September 2013
Version 11 of the study database includes significant new content increasing the number of GWAS from 1008 (34,131,526 p-values) to 1,605 studies (67,723,637 p-values, 2,935163 unique dbSNP markers). All phenotypes included in the studies have been annotated to MeSH controlled vocabulary with direct mappings to Human Phenotype Ontology (HPO) where available.
Version 11 includes data from:
NHGRI GWAS Catalog
Open Access Database of Genome-wide Association Results,
1958 British Birth Cohort
Studies from publication supplementary data
Direct Submissions to GWAS Central including submissions from contacting study owners
A short tutorial on how to use the GWAS Mart is now available in the Help section of the website.
Please see the following page for further details:
GWAS Central database summary updated in NAR Molecular Biology Database Collection highlighting developments from the past year
Semantically enabling a genome-wide association study database: a publication using data from GWAS Central describing a methodology for applying phenotype annotations to a comprehensive genome-wide association dataset and for ensuring compatibility with the Semantic Web was published December 2012.
The provision of GWAS nanopublications enables a new dimension for exploring GWAS data, by way of intrinsic links to related data resources within the Linked Data web. The value of such annotation and integration will grow as more biomedical resources adopt the standards of the Semantic Web.
The GWAS Central phenotype annotations can be queried and viewed from the web interface at:
The GWAS Central SPARQL end-point can be accessed at:
The human-mouse comparative phenotype pipeline described in this paper, named “get human and mouse phenotypes for a gene”, is available from myExperiment at:
GWAS Central version 6 has been released with the following new features:
- Website redesign and revamped cleaner user interface with improved search.
- Separate gene/region search to simplify finding data related to a gene or region.
- Updated MeSH to 2012 version.
- GWAS Mart data mining tool integrated into site through canned queries and GWAS Mart section.
- Human genome build 37 support (new versions of HGMD data, UCSC genes, HapMap data liftover and updating the GWAS Central marker catalogue and association database).