{"id":15,"date":"2022-02-04T13:14:09","date_gmt":"2022-02-04T13:14:09","guid":{"rendered":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/home\/"},"modified":"2022-02-09T10:46:05","modified_gmt":"2022-02-09T10:46:05","slug":"home","status":"publish","type":"page","link":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/","title":{"rendered":"Home"},"content":{"rendered":"
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\n The Samples, Phenotypes and Ontologies team, led by Helen Parkinson<\/a>, is organised into three themes, Semantics as a Service, GWAS Catalog and PGS Catalogs (in Collaboration with Cambridge colleagues Mike Inouye and Sam Lambert) and mammalian models of disease. The team is part of the Knowledge Management Section and works closely with colleagues across EMBL-EBI including the Human Cell Atlas<\/a>, the cohort integration project CINECA<\/a>, and the Covid19 Portal<\/a>. We also collaborate in delivery of the eQTL portal<\/a> and supply content and ontologies to the industry-academia precompetitive OpenTargets project<\/a>.\r\n\n Edit<\/a>\n <\/div>\n <\/div>\n <\/div>\n
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\n Helen Parkinson<\/a>\n <\/h3>\n \n

\n Section Head, Team Leader and Senior Scientist\n <\/p>\n \n

\n Samples, phenotypes and ontologies\n <\/p>\n \n \n \n \n \n \n \n Edit\n <\/a>\n <\/article>\n <\/div>\n\n <\/div>\n<\/div>\n\n\n\n\n\n

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\n Data resources \n <\/path>\n <\/svg><\/a><\/h2><\/div>\n
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\n \n \n \"Bubastis\"\n <\/a>\n \n

\n Bubastis<\/a>\n <\/h3>\n \n

\n Bubastis is an ontology change tool which is able to analyse two ontologies (typically two versions of the same ontology) to highlight logical changes which have occurred and to present these changes in more or less detail, as required\n <\/p>\n <\/article>\n

\n \n \n \"CancerModels.Org\"\n <\/a>\n \n

\n CancerModels.Org<\/a>\n <\/h3>\n \n

\n \n\n\n\n\n\n\n\n\n\n\nCancerModels.Org is a research platform that aggregates, standardises, and integrates the complex and diverse data associated with patient-derived cancer models (PDCMs) using FAIR principles. It provides a unified point for PDCM stakeholders, from basic and clinical researchers to bioinfo\u2026\n <\/p>\n <\/article>\n

\n \n \n \"eQTL\n <\/a>\n \n

\n eQTL Catalogue<\/a>\n <\/h3>\n \n

\n The eQTL Catalogue aims to provide uniformly processed gene expression and splicing QTLs from all available public studies on human.\n <\/p>\n <\/article>\n

\n \n \n \"European\n <\/a>\n \n

\n European Mouse Mutation Archive<\/a>\n <\/h3>\n \n

\n Renamed InfraFrontier\n <\/p>\n <\/article>\n

\n \n \n \"Experimental\n <\/a>\n \n

\n Experimental Factor Ontology<\/a>\n <\/h3>\n \n

\n EFO is a data-driven ontology that imports parts of existing community ontologies into a single framework. It is used for annotation, curation, query and visualisation of data by the Gene Expression Atlas, NHGRI GWAS Catalog, BioSamples database, and is being mapped to Ensembl variation.\n <\/p>\n <\/article>\n

\n \n \n \"GeneticScores.org\"\n <\/a>\n \n

\n GeneticScores.org<\/a>\n <\/h3>\n \n

\n GeneticScores.org offers a secure online service for calculating polygenic scores on user-encrypted genomic data. Using the validated pgsc_calc workflow, it produces transparent, standardised reports that support reproducible and responsible use of PGS in research.\n <\/p>\n <\/article>\n

\n \n \n \"International\n <\/a>\n \n

\n International Mouse Phenotyping Consortium Portal<\/a>\n <\/h3>\n \n

\n The International Mouse Phenotyping Consortium (IMPC) has initiated a global effort to generate and characterize a knockout mouse strain for every protein-coding gene in the mouse genome. EBI, The Wellcome Trust Sanger Institute and MRC Harwell deliver informatics as part of the MPI2 consortium acti\u2026\n <\/p>\n <\/article>\n

\n \n \n \"MorPhiC\"\n <\/a>\n \n

\n MorPhiC<\/a>\n <\/h3>\n \n

\n MorPhiC is a consortium dedicated to enabling a genome-scale understanding of human gene function. By systematically knocking out genes and studying the resulting phenotypic effects, MorPhiC aims to reveal the hidden roles that genes play in health and disease. EMBL-EBI is part of the MorPhiC consor\u2026\n <\/p>\n <\/article>\n

\n \n \n \"NHGRI-EBI\n <\/a>\n \n

\n NHGRI-EBI GWAS Catalog<\/a>\n <\/h3>\n \n

\n \n\u00a0\nThe GWAS Catalog is provided jointly by the\u00a0http:\/\/www.genome.gov\/&quothttp:\/\/www.genome.gov\/&quot\u201d>http:\/\/www.genome.gov\/&quotNational Human Genome Research Institute (NHGRI)\u00a0and the\u00a0http:\/\/www.ebi.ac.uk\/&quothttp:\/\/www.ebi.ac.uk\/&quot\u201d>http:\/\/www.ebi.ac.uk\/&quotEuropean Bioinformatics Institute\u2026\n <\/p>\n <\/article>\n

\n \n \n \"Ontology\n <\/a>\n \n

\n Ontology Lookup Service<\/a>\n <\/h3>\n \n

\n The OLS provides a web service interface to query multiple ontologies from a single location with a unified output format.The OLS can integrate any ontology available in the Open Biomedical Ontology (OBO) format.\n <\/p>\n <\/article>\n

\n \n \n \"Polygenic\n <\/a>\n \n

\n Polygenic Score Catalog<\/a>\n <\/h3>\n \n

\n A polygenic score (PGS)\u00a0aggregates the effects of many genetic variants into a single number which predicts genetic predisposition for a phenotype.\u00a0PGS\u00a0are typically composed of hundreds-to-millions of genetic variants (usually\u00a0SNPs) which are combined using a weighted sum of allele dosages multipli\u2026\n <\/p>\n <\/article>\n

\n \n \n \"Webulous\"\n <\/a>\n \n

\n Webulous<\/a>\n <\/h3>\n \n

\n Webulous is an application suite for collaborative ontology development, designed to support authoring ontologies by populating ontology design patterns through simple user interfaces.\n <\/p>\n <\/article>\n

\n \n \n \"Zooma\"\n <\/a>\n \n

\n Zooma<\/a>\n <\/h3>\n \n

\n Zooma is a curator environment for discovering optimal ontology annotations based on real, manually reviewed data.\n <\/p>\n <\/article>\n <\/div>\n <\/div>\n

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\n \n Latest jobs \n <\/path>\n <\/svg>\n <\/a>\n <\/h2>\n <\/div>\n
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\n Kindergarten Team Lead \/ Bereichsleitung Krippe (m\/w\/d)<\/a>\n <\/h3>\n

\n\n Administrative and support in EMBL Heidelberg<\/a>\n \n <\/p>\n

\n Das\u00a0EMBL Kinderhaus\u00a0ist ein lebendiges Kinderhaus und legt Wert auf eine zukunftsorientierte, internationale Entwicklung in partnerschaftlicher Zusammenarbeit mit Kindern, Eltern und p\u00e4dagogischen Fachkr\u00e4ften. Unsere Zusammenarbeit ist gepr\u00e4gt von gegenseitigem Respekt, Verl\u00e4sslichkeit und Transpare…\n <\/p>\n

\n \n Closes on 5th October.<\/span>\n <\/span>\n Posted 8th September 2026\n <\/p>\n Edit<\/a>\n\n <\/article>\n

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\n Biological Curator – Chemical Biology Resources<\/a>\n <\/h3>\n

\n\n Technology in EMBL-EBI Hinxton<\/a>\n \n <\/p>\n

\n About the Team\u00a0The Chemical Biology Resources Team at the European Bioinformatics Institute (EMBL-EBI) is looking for a talented Scientist with a flair for data curation to be responsible for the quality of bioactivity and drug discovery data in the ChEMBL database.ChEMBL is a world-leading chemogen…\n <\/p>\n

\n \n Closes on 29th September.<\/span>\n <\/span>\n Posted 8th September 2026\n <\/p>\n Edit<\/a>\n\n <\/article>\n <\/div>\n\n<\/div>\n<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":5,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"embl_taxonomy":[],"class_list":["post-15","page","type-page","status-publish","hentry"],"acf":[],"embl_taxonomy_terms":[],"_links":{"self":[{"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/pages\/15","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/comments?post=15"}],"version-history":[{"count":5,"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/pages\/15\/revisions"}],"predecessor-version":[{"id":102,"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/pages\/15\/revisions\/102"}],"wp:attachment":[{"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/media?parent=15"}],"wp:term":[{"taxonomy":"embl_taxonomy","embeddable":true,"href":"https:\/\/www.ebi.ac.uk\/about\/teams\/samples-phenotypes-ontologies\/wp-json\/wp\/v2\/embl_taxonomy?post=15"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}