About the team/job
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.
Your role
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.
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Why join us
Do something meaningful
At EMBL-EBI you can apply your talent and passion to accelerate science and tackle some of humankind's greatest challenges. EMBL-EBI, part of the European Molecular Biology Laboratory, is a worldwide leader in the storage, analysis and dissemination of large biological datasets. We provide the global research community with access to publicly available databases and tools which are crucial for the advancement of healthcare, food security, and biodiversity.
Join a culture of innovation
We are located on the Wellcome Genome Campus, alongside other prominent research and biotech organisations, and surrounded by beautiful Cambridgeshire countryside. This is a highly collaborative and inclusive community where our employees enjoy a relaxed atmosphere. We are committed to ensuring our employees feel valued, supported and empowered to reach their professional potential.
Enjoy lots of benefits:
For more details please see our employee benefits page.
What else you need to know
What else you need to know
Location: | Cambridge, Hinxton |
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Salary: | £2,882.54 + Grade 5 (monthly salary from £2,882.54 after tax plus benefits) |
Hours: | Full Time |
Contract Type: | Fixed-Term/Contract |
Placed On: | 1st March 2023 |
Closes: | 12th April 2023 |
Job Ref: | EBI02124 |
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