Bioinformatics Developer

About the team

We are seeking a skilled and highly motivated Bioinformatics Developer to join the Human Genomics Team at EMBL-EBI and contribute to the maintenance and development of the DECIPHER platform. DECIPHER is a global data sharing platform that fuels rare disease discovery and enables patient diagnosis. This is an exciting opportunity to join an innovative multi-disciplinary team dedicated to providing tools to assist in the interpretation of genetic variation and the responsible sharing of clinical data for patient benefit.

DECIPHER aggregates information from open data resources such as gnomAD and Uni Prot and utilizes bioinformatics tools such as the Ensembl Variant Effect Predictor (VEP) to create detailed variant annotations. These are presented in user friendly visualisations to help clinical experts interpret likely disease-associated variants identified in their patients.

Clinical centres can share variants and summary phenotype information from their patients through DECIPHER, enabling matching with other patients with similar conditions and collaboration between clinicians for patient benefit. With the help of DECIPHER, many thousands of patients now have a diagnosis and hundreds of papers are published every year improving understanding of rare diseases. By joining this project you will be playing an important role in advancing rare disease research, diagnosis, and discovery for genomic health.

As the Bioinformatics Developer in the DECIPHER team, you will work alongside two software developers, a support specialist and the project leader to make the latest research data available for use in clinical settings. You will utilize your bioinformatics knowledge in assessment of resources, discussions with data producers and data analysis, reformatting, and integration tasks. This role offers the exciting opportunity to gain knowledge of clinical genomics and improved web development skills while creating tools to facilitate genomic medicine.

You will see the real world impact of your work through interactions with our clinical collaborators and other DECIPHER stakeholders.

This role can be offered on a full-time or a part-time basis at 80% of full-time hours.

• Investigating, assessing and integrating molecular biology and phenotypic data in varying formats from public resources
• Deploying bioinformatics tools in the DECIPHER environment and analysing genomic data
• Designing, testing, implementing data structures and user interfaces to represent information relating to the human genome and genetic disorders.
• Supporting DECIPHER users by responding to bug reports and requests for support or new features
• Working with stakeholders to understand and translate their requirements into feature specifications
• Performing ad hoc analyses to investigate potential data issues and support decision making
• Liaising with other groups at EMBL-EBI and external collaborators to understand the resources they have created and how they could integrate with DECIPHER
• Bringing bioinformatics expertise to the DECIPHER team and representing the DECIPHER project at internal and external meetings

• Bachelors (or equivalent) degree in biological, clinical or computational sciences
• Higher degree or equivalent experience in bioinformatics, software engineering or computational sciences
• Experience of bioinformatics standards, tools and resources, preferably those relevant to variant annotation
• Experience of creating methods to manage and process genomics data
• Experience designing and utilising large-scale relational databases, preferably with PostgreSQL.
• Proficiency in a language used for data manipulation and analysis such as R and Python.
• Familiarity with…