We are seeking a Bioinformatics Engineer to help develop and scale knowledge platforms that underpin the NHS Whole Genome Sequencing (WGS) Genomic Medicine Service, including PanelApp and CellBase. These systems are key to clinical impact, by enabling management of the latest variant annotation data as well as curation, validation and delivery of gene–disease relationships into clinical pipelines across the NHS.
You will work on big data production systems spanning Python-based services and Java-backed platforms , building APIs, data models, and pipelines that deliver high-quality, clinically relevant genomic knowledge at scale.
In this role, you will collaborate closely with genomic data scientists, curators, engineers and pipeline teams to translate evolving clinical requirements into robust, testable software suitable for use in a regulated environment. You will take ownership of system design, implementation, and data integrity, ensuring that our platforms remain reliable, performant, and clinically trustworthy.
You will work within an agile team to deliver and continuously improve production systems, contributing to engineering standards and shaping how we build. As a bioinformatics specialist in the team, you will guide design decisions and ensure that clinical and biological context is accurately reflected in the software.
Everyday responsibilities include:
- Produce high-quality code for high throughput sequencing data analysis, genome analysis, workflows and interpretation.
- Interact with domain experts during the lifecycle of projects to ensure the scientific validity of software products.
- Contribute to discovery tasks during the initial phase of new developments and achieve understanding of early-stage decisions to inform final software design.
- Produce automated tests to validate existing and new code.
- Contribute to all testing and deployment stages up to the production environment.
- Write documentation to achieve an exhaustive log of decisions, designs, tests, results etc. that enable full traceability of processes.
- Be a proactive member of a squad, adopting agile practices and offering subject matter expertise.
- Ensure adherence to the various standards and accreditations required for both clinical laboratory practice and software delivery.
Skills and experience for success:
Core engineering
- Strong Python development skills, including writing production code, tests, and working with modern libraries and tooling.
- Experience designing and maintaining production systems such as APIs, data pipelines, or data‑backed services.
- Experience with collaborative development workflows (Git, code review, branching strategies) and CI/CD pipelines.
Bioinformatics / data‑wrangling
- Experience working with genomic or other biological datasets and the associated standards and data models (for example gene/transcript models, variants, ontologies).
- Experience integrating and validating heterogeneous biological datasets (e.g. Ensembl, ClinVar, gnomAD, in silico predictors), including ingestion, harmonisation, and checking that downstream query results are complete and biologically or clinically meaningful.
- Ability to assess and ensure data quality, including identifying inconsistencies, designing checks to confirm completeness of data ingestion, and validating that system outputs are accurate and clinically appropriate.
Desirable
- Programming experience with Java services.
- Experience with genomic variant annotation, gene–disease curation systems, or clinical knowledgebases.