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. 2016 Oct 15;32(20):3207-3209.
doi: 10.1093/bioinformatics/btw373. Epub 2016 Jun 17.

PhenoScanner: a database of human genotype-phenotype associations

James R Staley  1 , James Blackshaw  1 , Mihir A Kamat  1 , Steve Ellis  1 , Praveen Surendran  1 , Benjamin B Sun  1 , Dirk S Paul  1 , Daniel Freitag  1 , Stephen Burgess  1 , John Danesh  2 , Robin Young  3 , Adam S Butterworth  4
Affiliations

PhenoScanner: a database of human genotype-phenotype associations

James R Staley et al. Bioinformatics. .

Abstract

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.

Availability and implementation: PhenoScanner is available at www.phenoscanner.medschl.cam.ac.uk CONTACT: jrs95@medschl.cam.ac.ukSupplementary information: Supplementary data are available at Bioinformatics online.

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Figures

Fig. 1.
Fig. 1.
Association results for rs10840293 with a subset of the traits (a) and diseases (b) available in PhenoScanner. An asterisk indicates the use of a proxy variant (rs93138; r2=0.95) in reporting the association. SD, standard deviation; OR, odds ratio
See this image and copyright information in PMC

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