The Genome Interpretation team builds resources to enable the use of genomic data in clinical settings. We develop the Gene2Phenotype (G2P) system, which accelerates diagnostic variant filtering, and the DECIPHER platform, which enables anonymised phenotype-linked variant sharing and interpretation.
Despite progress in genome sequencing, the majority of patients affected by rare diseases remain undiagnosed. We are starting an exciting new project, the PARADIGM initiative, in collaboration with groups at the Sanger Institute and the Cambridge, Edinburgh, Exeter and Imperial Universities, to find novel genetic causes of disease and improve diagnosis rates.
As a curator you will work with a team of clinical experts to create evidence-based gene-disease models for use in diagnostic filtering. You will extract information on gene-disease mechanism from the literature, evaluate the supporting evidence and enter the information to the G2P database in a standardised format. We seek to automate the curation process and expand to further disease areas by the adoption of text mining and machine learning approaches. You will be involved in the creation of gold-standard curations to help train these new methods and will help assess computationally derived models to maintain output quality. You will also collaborate with G2P developers to define improvements to curation interfaces.
This role would be an excellent opportunity for someone from a clinical background to learn bioinformatics skills or for someone with a background in biological sciences to gain an understanding of the latest clinical research.
A Bachelors (or equivalent) degree in medical or biological sciences; a higher degree or equivalent experience
The ability to apply scientific knowledge in the understanding of scientific research articles
Excellent attention to detail
High motivation with scientific curiosity and initiative
Strong English language written and oral communication, organisational skills, and computer skills
The ability to collaborate effectively with colleagues from different disciplines, both in person and remotely
You might also have
Experience in reviewing and summarising scientific literature
Experience of biological/clinical data curation
Experience of working in clinical genetics or genomic diagnosis eg. as a clinician, genetic counsellor or clinical scientist
Experience of working with biological databases
Experience of working with ontologies or controlled vocabularies
Experience of working in a UNIX/Linux environment, basic scripting skills
Benefits and Contract Information
Financial incentives: depending on circumstances, monthly family/marriage allowance of £243, monthly child allowance of £293 per child. Non resident allowance up to £496 per month. Annual salary review, pension scheme, death benefit, long-term care, accident-at-work and unemployment insurances
Hybrid working arrangements
Private medical insurance for you and your immediate family (including all prescriptions and generous dental & optical cover)
Generous time off: 30 days annual leave per year, in addition to eight bank holidays
Relocation package including installation grant (as applicable)
Campus life: Free shuttle bus to and from work, on-site library, subsidised on-site gym and cafeteria, casual dress code, extensive sports and social club activities (on campus and remotely)
Family benefits: On-site nursery, child sick leave, generous parental leave, holiday clubs on campus and monthly family and child allowances
Contract duration: This position is a 3 year contract
Salary: UK Equivalent £45,434 - £72,405 (Total package will be dependant on family circumstances)
International applicants: We recruit internationally and successful candidates are offered visa exemptions. Read more on our page for international applicants.
Diversity and inclusion: 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.
Job location: This role is based in Hinxton, near Cambridge, UK. You will be required to relocate if you are based overseas and you will receive a generous relocation package to support you.
How to apply: To apply please submit a cover letter and a CV through our online system before the closing date.
DORA - EMBL is a signatory of DORA and is committed to hiring and training outstanding research, service, and administrative personnel.
Please apply through the link: https://www.embl.org/jobs/position/EBI02124