lunes, 10 de septiembre de 2012

WikiGWA: an open platform for collecting and... [Eur J Hum Genet. 2012] - PubMed - NCBI

WikiGWA: an open platform for collecting and... [Eur J Hum Genet. 2012] - PubMed - NCBI

Eur J Hum Genet. 2012 Aug 29. doi: 10.1038/ejhg.2012.187. [Epub ahead of print]

WikiGWA: an open platform for collecting and using genome-wide association results.


Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.


The number of discovered genetic variants from genome-wide association (GWA) studies (GWAS) has been growing rapidly. Centralized efforts such as the National Human Genome Research Institute's GWAS catalog provide regular updates and a convenient interface for quick lookup. However, the catalog entries are manually curated and rely on data from published articles. Other tools such as SNPedia ( collect published results regarding functional consequences of genetic variations. Here, we propose an approach that allows individual investigators to share their GWA results through an open platform. Unlike GWAS catalog or SNPedia, wikiGWA collects first-hand GWAS results and in a much larger scale. Investigators are not only able to post a much larger amount of results, but also post results from unpublished studies, which could alleviate publication bias and facilitate identification of weak signals. Our interface allows for flexible and fast queries, and the query results are formatted to work seamlessly with the LocusZoom program for visualization and annotation. We here describe wikiGWA, made publically available at Journal of Human Genetics advance online publication, 29 August 2012; doi:10.1038/ejhg.2012.187.


[PubMed - as supplied by publisher]

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