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dc.contributor.authorOfoegbu, TC
dc.contributor.authorDavid, A
dc.contributor.authorKelley, LA
dc.contributor.authorMezulis, S
dc.contributor.authorIslam, SA
dc.contributor.authorMersmann, SF
dc.contributor.authorStrömich, L
dc.contributor.authorVakser, IA
dc.contributor.authorHoulston, RS
dc.contributor.authorSternberg, MJE
dc.date.accessioned2020-06-03T14:07:29Z
dc.date.issued2019-06
dc.identifier.citationJournal of molecular biology, 2019, 431 (13), pp. 2460 - 2466
dc.identifier.issn0022-2836
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3692
dc.identifier.eissn1089-8638
dc.identifier.doi10.1016/j.jmb.2019.04.043
dc.description.abstractPhyreRisk is an open-access, publicly accessible web application for interactively bridging genomic, proteomic and structural data facilitating the mapping of human variants onto protein structures. A major advance over other tools for sequence-structure variant mapping is that PhyreRisk provides information on 20,214 human canonical proteins and an additional 22,271 alternative protein sequences (isoforms). Specifically, PhyreRisk provides structural coverage (partial or complete) for 70% (14,035 of 20,214 canonical proteins) of the human proteome, by storing 18,874 experimental structures and 84,818 pre-built models of canonical proteins and their isoforms generated using our in house Phyre2. PhyreRisk reports 55,732 experimentally, multi-validated protein interactions from IntAct and 24,260 experimental structures of protein complexes. Another major feature of PhyreRisk is that, rather than presenting a limited set of precomputed variant-structure mapping of known genetic variants, it allows the user to explore novel variants using, as input, genomic coordinates formats (Ensembl, VCF, reference SNP ID and HGVS notations) and Human Build GRCh37 and GRCh38. PhyreRisk also supports mapping variants using amino acid coordinates and searching for genes or proteins of interest. PhyreRisk is designed to empower researchers to translate genetic data into protein structural information, thereby providing a more comprehensive appreciation of the functional impact of variants. PhyreRisk is freely available at http://phyrerisk.bc.ic.ac.uk.
dc.formatPrint-Electronic
dc.format.extent2460 - 2466
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectProteins
dc.subjectProteomics
dc.subjectComputational Biology
dc.subjectGenomics
dc.subjectProtein Conformation
dc.subjectSoftware
dc.subjectGenetic Variation
dc.titlePhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants.
dc.typeJournal Article
dcterms.dateAccepted2019-04-29
rioxxterms.versionofrecord10.1016/j.jmb.2019.04.043
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2019-06
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfJournal of molecular biology
pubs.issue13
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics
pubs.publication-statusPublished
pubs.volume431
pubs.embargo.termsNot known
icr.researchteamCancer Genomicsen_US
dc.contributor.icrauthorHoulston, Richarden


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