PhenoScanner: a database of human genotype–phenotype associations | Zendy

James R Staley | Zendy; James Blackshaw | Zendy; Mihir Kamat | Zendy; Ian O. Ellis | Zendy; Praveen Surendran | Zendy; Benjamin B. Sun | Zendy; Dirk S. Paul | Zendy; Daniel Freitag | Zendy; Stephen Burgess | Zendy; John Danesh | Zendy; Robin Young | Zendy; Adam S. Butterworth | Zendy

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PhenoScanner: a database of human genotype–phenotype associations

Author(s) -

James R Staley,

James Blackshaw,

Mihir Kamat,

Ian O. Ellis,

Praveen Surendran,

Benjamin B. Sun,

Dirk S. Paul,

Daniel Freitag,

Stephen Burgess,

John Danesh,

Robin Young,

Adam S. Butterworth

Publication year - 2016

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btw373

Subject(s) - international hapmap project , phenome , genome wide association study , single nucleotide polymorphism , genetic association , biology , database , trait , computational biology , phenotype , genotype , genetics , computer science , gene , programming language

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.

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