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Article

PhenoScanner: a database of human genotype-phenotype associations.

Bioinformatics (Oxford, England) - 15 Oct 2016

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27318201
DOI: 10.1093/bioinformatics/btw373
PMCID: PMC5048068

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