Helen Parkinson
Section Head, Team Leader and Senior Scientist
Samples, phenotypes and ontologies
EditDelivering databases and interoperability tools for mammalian models of disease, GWAS, PGS and Polygenic Scores.
Section Head, Team Leader and Senior Scientist
Samples, phenotypes and ontologies
Edit
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 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…
The eQTL Catalogue aims to provide uniformly processed gene expression and splicing QTLs from all available public studies on human.
Renamed InfraFrontier
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 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.
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 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…
The GWAS Catalog is provided jointly by the http://www.genome.gov/"http://www.genome.gov/"”>http://www.genome.gov/"National Human Genome Research Institute (NHGRI) and the http://www.ebi.ac.uk/"http://www.ebi.ac.uk/"”>http://www.ebi.ac.uk/"European Bioinformatics Institute…
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.
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 is an application suite for collaborative ontology development, designed to support authoring ontologies by populating ontology design patterns through simple user interfaces.
Zooma is a curator environment for discovering optimal ontology annotations based on real, manually reviewed data.
About the TeamDo you want to develop the tools and resources researchers from around the world will use to interrogate genomic data? Would you like to be part of a team developing novel data visualisations? EMBL-EBI and the Ensembl project are looking for a Web Developer to help develop and deliver…
Closes on 26th March. Posted 25th February 2026
EditYour role Establishing and maintaining active and effective relations with science journalists, science communications professionals, and local partners in Grenoble, the region, and across France Identifying, producing and editing high-quality content in both English and French for multiple channels…
Closes on 26th March. Posted 25th February 2026
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