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Samples, phenotypes and ontologies

Delivering databases and interoperability tools for mammalian models of disease, GWAS, PGS and Polygenic Scores.

The Samples, Phenotypes and Ontologies team, led by Helen Parkinson, 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, the cohort integration project CINECA, and the Covid19 Portal. We also collaborate in delivery of the eQTL portal and supply content and ontologies to the industry-academia precompetitive OpenTargets project. Edit

Data resources

Bubastis

Bubastis

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

CancerModels.Org

CancerModels.Org

CancerModels.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…

eQTL Catalogue

eQTL Catalogue

The eQTL Catalogue aims to provide uniformly processed gene expression and splicing QTLs from all available public studies on human.

Experimental Factor Ontology

Experimental Factor Ontology

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.

GeneticScores.org

GeneticScores.org

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.

International Mouse Phenotyping Consortium Portal

International Mouse Phenotyping Consortium Portal

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…

MorPhiC

MorPhiC

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…

NHGRI-EBI GWAS Catalog

NHGRI-EBI GWAS Catalog

  The GWAS Catalog is provided jointly by the http://www.genome.gov/&quothttp://www.genome.gov/&quot”>http://www.genome.gov/&quotNational Human Genome Research Institute (NHGRI) and the http://www.ebi.ac.uk/&quothttp://www.ebi.ac.uk/&quot”>http://www.ebi.ac.uk/&quotEuropean Bioinformatics Institute…

Ontology Lookup Service

Ontology Lookup Service

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.

Polygenic Score Catalog

Polygenic Score Catalog

A polygenic score (PGS) aggregates the effects of many genetic variants into a single number which predicts genetic predisposition for a phenotype. PGS are typically composed of hundreds-to-millions of genetic variants (usually SNPs) which are combined using a weighted sum of allele dosages multipli…

Webulous

Webulous

Webulous is an application suite for collaborative ontology development, designed to support authoring ontologies by populating ontology design patterns through simple user interfaces.

Zooma

Zooma

Zooma is a curator environment for discovering optimal ontology annotations based on real, manually reviewed data.

Latest jobs

Rezeptionsassistenz (m/w/d)

Administrative and support in EMBL Heidelberg

Das European Molecular Biology Laboratory (EMBL) ist eines der führenden Forschungszentren für Lebenswissenschaften. Der Hauptsitz in Heidelberg bietet ein internationales, dynamisches Umfeld mit modernster Forschung und Mitarbeitenden aus über 80 Nationen.Die Rezeption des EMBL ist von Montag bis F…

Closes on 4th January. Posted 8th December 2025

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User Experience (UX) Designer

Technology in EMBL-EBI Hinxton

We are seeking a proactive and creative User Experience (UX) Designer to join our dynamic team. This role is ideal for a designer with experience in data-heavy environments who can craft intuitive, user-centric interfaces and workflows for complex scientific applications. If you are passionate about…

Closes on 12th January. Posted 8th December 2025

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