Journal
BIOINFORMATICS
Volume 35, Issue 22, Pages 4851-4853Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btz469
Keywords
-
Categories
Funding
- UK Medical Research Council [G0800270, MR/L003120/1]
- British Heart Foundation [SP/09/002, RG/13/13/30194, RG/18/13/33946]
- Pfizer [G73632]
- European Research Council [268834]
- European Commission [HEALTH-F2-2012-279233]
- National Institute for Health Research
- Health Data Research UK
- European Research Council (ERC) [268834] Funding Source: European Research Council (ERC)
- MRC [MR/L003120/1, G0800270, MC_UU_00002/7, MR/S003746/1] Funding Source: UKRI
Ask authors/readers for more resources
A 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available