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dc.contributor.authorKamat, Mihir Aen
dc.contributor.authorBlackshaw, Jamesen
dc.contributor.authorYoung, Robinen
dc.contributor.authorSurendran, Praveenen
dc.contributor.authorBurgess, Stephenen
dc.contributor.authorDanesh, Johnen
dc.contributor.authorButterworth, Adamen
dc.contributor.authorStaley, James Ren
dc.date.accessioned2019-06-07T23:30:25Z
dc.date.available2019-06-07T23:30:25Z
dc.date.issued2019-11en
dc.identifier.issn1367-4803
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/293487
dc.description.abstractSummary: 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.
dc.description.sponsorshipThis work was supported by the UK Medical Research Council [G0800270; MR/L003120/1], the British Heart Foundation [SP/09/002; RG/13/13/30194; RG/18/13/33946], Pfizer [G73632], the European Research Council [268834], the European Commission Framework Programme 7 [HEALTH-F2-2012-279233], the National Institute for Health Research and Health Data Research UK (*). *The views expressed are those of the authors and not necessarily those of the NHS or the NIHR.
dc.format.mediumPrinten
dc.languageengen
dc.publisherOxford University Press
dc.rightsAll rights reserved
dc.subjectHumansen
dc.subjectGenotypeen
dc.subjectLinkage Disequilibriumen
dc.subjectPhenotypeen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectGenomeen
dc.subjectSoftwareen
dc.subjectGenome-Wide Association Studyen
dc.subjectGenetic Association Studiesen
dc.titlePhenoScanner V2: an expanded tool for searching human genotype-phenotype associations.en
dc.typeArticle
prism.endingPage4853
prism.issueIdentifier22en
prism.publicationDate2019en
prism.publicationNameBioinformatics (Oxford, England)en
prism.startingPage4851
prism.volume35en
dc.identifier.doi10.17863/CAM.40631
dcterms.dateAccepted2019-06-19en
rioxxterms.versionofrecord10.1093/bioinformatics/btz469en
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2019-11en
dc.contributor.orcidBlackshaw, James [0000-0002-0343-0319]
dc.contributor.orcidSurendran, Praveen [0000-0002-4911-6077]
dc.contributor.orcidBurgess, Stephen [0000-0001-5365-8760]
dc.contributor.orcidDanesh, John [0000-0003-1158-6791]
dc.contributor.orcidButterworth, Adam [0000-0002-6915-9015]
dc.identifier.eissn1367-4811
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idMRC (G0800270)
pubs.funder-project-idEuropean Research Council (268834)
pubs.funder-project-idMRC (MR/L003120/1)
pubs.funder-project-idBritish Heart Foundation (RG/13/13/30194)
pubs.funder-project-idMRC (MR/S003746/1)
pubs.funder-project-idMedical Research Council (MC_UU_00002/7)
pubs.funder-project-idBritish Heart Foundation (RG/18/13/33946)
cam.orpheus.successThu Jan 30 10:43:49 GMT 2020 - Embargo updated*
rioxxterms.freetoread.startdate2020-11-30


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