This is an opportunity to contribute to an international ontology alignment effort (uPheno) covering all the major phenotype and trait ontologies in use today. This work will improve tools that use intra and inter-species inference of phenotypic similarity to help find the genetic causes of clinical phenotype and disease from among the vast array of variants found in patient genomes. It will also provide one of the critical inputs to tools developed to find and prioritise drug targets.
Your work will be part of the NIH funded Phenomics First Initiative, an international consortium co-ordinated by an NIH Center of Excellence in Genomic Science and including the developers of the Human Phenotype Ontology and MONDO disease ontology. It will involve a wide range of collaborations with phenotype and trait ontology developers and users around the world.
- Designing and implementing schemas and term templates for defining phenotype ontology terms
- Editing and extending ontologies used to define phenotypes including the cross-species anatomy ontology Uberon
- Contributing to human phenotype/trait to disease mappings
- Helping coordinate the work of a large community of ontology editors
- Soliciting expert input and feedback
- A PhD in biology/medicine
- A background in or good understanding of one or more of the following:
- clinical traits; comparative anatomy; genetics; physiology; GWAS
You might also have
- Experience in Biocuration, especially if it involves curation with ontology terms.
- Scripting skills: knowledge and experience with Python & Unix/shell would be especially useful.
- Some understanding of/experience with ontology development, especially ontology development using Web Ontology Language (OWL).
What else you need to know
To apply please submit a covering letter and CV through our online system.
At EMBL-EBI, we strongly believe that inclusive and diverse teams benefit from higher levels of innovation and creative thought. We encourage applications from women, LGBTQ and individuals from all nationalities. Visa exemptions will be offered to international candidates and details will be discussed during interview. We believe in science without borders and this continues after Brexit.
This role is based in Hinxton, UK and you will be required to relocate once it is safe to do so if you are currently based abroad. More info on how we are recruiting in this period is available on our page: Recruitment and Onboarding during Covid19.
This position is limited to the project duration of 2-years or until end May 2025 in the first instance.
We aim to provide a response within two weeks after the closing date.
Job no.: EBI01759