Abstract

Abstract Summary PhenoScanner is a curated database of publicly available results from large-scale genetic association studies in humans. This online tool facilitates ‘phenome scans’, where genetic variants are cross-referenced for association with many phenotypes of different types. Here we present a major update of PhenoScanner (‘PhenoScanner V2’), including over 150 million genetic variants and more than 65 billion associations (compared to 350 million associations in PhenoScanner V1) with diseases and traits, gene expression, metabolite and protein levels, and epigenetic markers. The query options have been extended to include searches by genes, genomic regions and phenotypes, as well as for genetic variants. All variants are positionally annotated using the Variant Effect Predictor and the phenotypes are mapped to Experimental Factor Ontology terms. Linkage disequilibrium statistics from the 1000 Genomes project can be used to search for phenotype associations with proxy variants. Availability and implementation PhenoScanner V2 is available at www.phenoscanner.medschl.cam.ac.uk.

Keywords

PhenomePhenotypeBiologyLinkage disequilibriumComputational biologyGenetic associationGeneticsGenome-wide association studyPhenotypic traitEpigeneticsGenotypeGeneSingle-nucleotide polymorphism

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Publication Info

Year
2019
Type
article
Volume
35
Issue
22
Pages
4851-4853
Citations
2334
Access
Closed

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Mihir Kamat, James Blackshaw, Robin Young et al. (2019). PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations. Bioinformatics , 35 (22) , 4851-4853. https://doi.org/10.1093/bioinformatics/btz469

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DOI
10.1093/bioinformatics/btz469