Introduction

PhenoScanner is a curated database holding publicly available results from large-scale genome-wide association studies. The motivation for creating this tool is to facilitate “phenome scans”, the cross-referencing of genetic variants with a broad range of phenotypes, to help aid the understanding of disease pathways and biology.

The catalogue currently contains over 65 billion associations and over 150 million unique genetic variants. The results are aligned across traits to the same effect and non-effect alleles for each genetic variant. PhenoScanner can perform queries on genetic variants, genes (p < 1E-5), genomic regions (p < 1E-5) and traits (p < 1E-5).

 

Citation

To cite PhenoScanner, please refer to our paper:

James R Staley, James Blackshaw, et al.
PhenoScanner: a database of human genotype-phenotype associations.
Bioinformtics 2016; 32(20):3207-3209

PubMed: 27318201

 

Licence

Terms of use

If you use PhenoScanner you agree to the following terms:

  • You will cite our paper in any publication or presentation where you use results from PhenoScanner (see citation above).
  • You will cite the original paper where the results were obtained, including the references for the linkage disequilibrium statistics and variant & phenotype mappings where used (table of studies).
  • You will follow any additional terms and conditions of the underlying data (table of studies).

 

Disclaimer

PhenoScanner imposes no restrictions on access to, or use of, the data provided and the software used to present it. The data generated by members of the project are available without restriction.

The Cardiovascular Epidemiology Unit, University of Cambridge has not knowingly invalidated any terms and conditions of the underlying data and provide this database and software in good faith, but make no warranty, expressed or implied, nor assume any legal liability or responsibility for any purpose for which they are used. Users of the data do so at their own risk.

 

Acknowledgements

  • Head developer: James Staley
  • Production team: James Staley, Mihir Kamat, James Blackshaw, Praveen Surendran, Adam Butterworth & Robin Young
  • Acknowledgements: Benjamin Sun, Steve Ellis, Dirk Paul, Stephen Burgess, Daniel Freitag & John Danesh
  • Funders: UK Medical Research Council (G0800270), British Heart Foundation (SP/09/002), UK National Institute for Health Research Cambridge Biomedical Research Centre And European Research Council (268834) & European Commission Framework Programme 7 (HEALTH-F2-2012-279233)

 

Contact

To contact the PhenoScanner production team, please email phenoscanner@gmail.com.

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