Bioinformatics Engineer; office locations

Genomics England is a global leader in enabling genomic medicine and research, focused on creating a world where everyone benefits from genomic healthcare. Building on the 100,000 Genomes Project, we support the NHS’s world‑first national whole genome sequencing service and run the growing National Genomic Research Library, alongside delivering numerous major genomics initiatives. By connecting research and clinical care at national scale, we enable immediate healthcare benefits and advances for the future.

Our mission is to provide the evidence and digital systems so that by 2035 genomics could play a role in up to half of all healthcare interactions, whilst securing the UK’s position as the best place to discover, prove and benefit from genomic innovations.

We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.

Behind the Healthcare and Research outcomes, Genomics England delivers through designing, developing and operating complex healthcare software systems.

We’re on the cusp of big changes with the real prospect of genomics becoming the fabric of everyday healthcare through the lifetime – from birth to old age.

We are looking for a skilled Bioinformatics Engineer to work on our rare disease genome analysis pipeline. The pipeline utilises cutting‑edge genomics techniques to analyse genomes generated by Illumina sequencing technology and provides insights on diagnosis for patients with rare diseases. This pipeline is a key component of the NHS WGS Genomic Medicine Service: this position offers a unique opportunity for a bioinformatics engineer to have real world, positive impact for rare disease patients.

Bioinformatics Engineers are software engineers with extensive experience in bioinformatics and are responsible for developing and maintaining software tools and datasets used to solve a wide variety of bioinformatic needs. They are also responsible for the high quality and robustness of such tools, following best practices during software design, development, and testing.

As a Bioinformatics Engineer at Genomics England, you will also be required to follow and contribute to agile practices, as well as to act as a subject‑matter expert for bioinformatics. You will be supporting the continuous improvement of our practices, collaborating, and adhering to engineering standards.

Everyday responsibilities include:

• Produce automated tests to validate existing and new code.
• Contribute to all testing and deployment stages up to the production environment.
• 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.
• 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:

• Experience in software testing strategies.
• Solid skillset in Bioinformatics, understanding of the standards, data sources and tool chains used in NGS.
• Proficient in Linux and containerisation techniques (Docker, Singularity).
• Excellent.
• Solid expertise of developing production quality algorithms and software to analyse large datasets.
• Experience with CI/CD pipelines in a repository / version control system.
• Experience in building scientific workflows. Experience with Nextflow is highly desirable.

MSc equivalent or higher in Software Engineering, Computer Science, Bioinformatics or equivalent experience.