PhenoScanner: a database of human genotype-phenotype associations

Staley, J. R. et al. (2016) PhenoScanner: a database of human genotype-phenotype associations. Bioinformatics, 32(20), pp. 3207-3209. (doi: 10.1093/bioinformatics/btw373) (PMID:27318201) (PMCID:PMC5048068)

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PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate “phenome scans”, the cross-referencing of genetic variants with many phenotypes, to help aid understanding of disease pathways and biology. The database currently contains over 350 million association results and over 10 million unique genetic variants, mostly single nucleotide polymorphisms. It is accompanied by a web-based tool that queries the database for associations with user-specified variants, providing results according to the same effect and non-effect alleles for each input variant. The tool provides the option of searching for trait associations with proxies of the input variants, calculated using the European samples from 1000 Genomes and Hapmap.

Item Type:Articles
Additional Information:This work was supported by the UK Medical Research Council [G66840, G0800270], Pfizer [G73632], British Heart Foundation [SP/09/002], UK National Institute for Health Research Cambridge Biomedical Research Centre, European Research Council [268834], and European Commission Framework Programme 7 [HEALTH-F2-2012-279233].
Glasgow Author(s) Enlighten ID:Young, Dr Robin
Authors: Staley, J. R., Blackshaw, J., Kamat, M. A., Ellis, S., Surendran, P., Sun, B. B., Paul, D. S., Freitag, D., Burgess, S., Danesh, J., Young, R., and Butterworth, A. S.
Subjects:Q Science > Q Science (General)
College/School:College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > Robertson Centre
Journal Name:Bioinformatics
Publisher:Oxford University Press
ISSN (Online):1460-2059
Published Online:17 June 2016
Copyright Holders:Copyright © 2016 The Authors
First Published:First published in Bioinformatics 32(20): 3207-3209
Publisher Policy:Reproduced under a Creative Commons License

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