Project Documentation

The GWAS project is a collaboration with the NHGRI Catalog of Genome Wide Association Studies (GWAS Catalog). It aims to improve and extend the curation and visualisation of catalogue data through the use of semantic web technologies.

Description

The GWAS project encompasses the development of a number of tools as well as the mapping of catalogue data into EFO. The key development effort is focused on the automatic data-driven generation of the GWAS diagram, an iconic visualisation of the catalogue data.

GWAS Diagram Browser screenshot

The GWAS diagram shows each trait associated with a SNP, in the literature, located on the human genome. You can explore the catalog by hovering your mouse over each dot - the popup text indicates the trait this SNP is associated with. The diagram only the association with each cytogenetic band - SNP details and chromosomic locations are available by querying the GWAS catalog.

Availability

The GWAS Diagram Browser is available at http://www.ebi.ac.uk/fgpt/gwas.

Issues and support

Issues and feature requests

To request a new feature or if you think you've found a bug, use the GWAS Ontology and Curation Infrastructure bug tracker.

Support

If you need help using this tool, please email fgpt@ebi.ac.uk.

Contact

For more information or to get involved please email Danielle Welter.

Acknowledgements

The tooling for this project was developed by Danielle Welter and Tony Burdett, with input from Helen Parkinson, Jackie MacArthur and Joannella Morales at the EBI and the catalogue curation team at the NHGRI.

The project was funded by the NHGRI grant number 3U41HG006104-01S1.


Software

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