Company Description
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.
Job Description
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.
Qualifications
MSc equivalent or higher in Software Engineering, Computer Science, Bioinformatics or equivalent experience.
Additional Information
Salary from: £56,000
Closing date for applications - Friday 22nd May
Being an integral part of such a meaningful mission is extremely rewarding in itself, but in order to support our people, we’re continually improving our benefits package. We pride ourselves on investing in our people and supporting them to achieve their career goals, as well as offering a benefits package including:
Generous Leave: 30 days’ holiday plus bank holidays, additional leave for long service, and the option to apply for up to 30 days of remote working abroad annually (approval required).
Family-Friendly: Blended working arrangements, flexible working, enhanced maternity, paternity and shared parental leave benefits.
Pension & Financial: Defined contribution pension (Genomics England double-matches up to 10%, however you can contribute more if you wish), Life Assurance (3x salary), and a Give As You Earn scheme.
Learning & Development: Individual learning budgets, support for training and certifications, and reimbursement for one annual professional subscription (approval required).
Recognition & Rewards: Employee recognition programme and referral scheme.
Health & Wellbeing: Subsidised gym membership, a free Headspace account, and access to an Employee Assistance Programme, eye tests, flu jabs.Equal opportunities and our commitment to a diverse and inclusive workplace
Genomics England is actively committed to providing and supporting an inclusive environment that promotes equity, diversity and inclusion best practice both within our community and in any other area where we have influence. We are proud of our diverse community where everyone can come to work and feel welcomed and treated with respect regardless of any disability, ethnicity, gender, gender identity, religion, sexual orientation, or social background.
Genomics England’s policies of non-discrimination and equity and will be applied fairly to all people, regardless of age, disability, gender identity or reassignment, marital or civil partnership status, being pregnant or recently becoming a parent, race, religion or beliefs, sex or sexual orientation, length of service, whether full or part-time or employed under a permanent or a fixed-term contract or any other relevant factor.
Genomics England does not tolerate any form of discrimination, harassment, victimisation or bullying at work. Such behaviour undermines our mission and core values and diminishes the dignity, respect and integrity of all parties. Our People policies outline our commitment to inclusivity.
We aim to remove barriers in our recruitment processes and to be flexible with our interview processes. Should you require any adjustments that may help you to fully participate in the recruitment process, we encourage you to discuss this with us.
Culture
We have four key behaviours that represent what we would like Genomics England to feel like and the culture we want to encourage, in order for us to achieve our mission. These behaviours help us all work well together, deliver on our outcomes, celebrate our successes and share feedback with each other. You can read about these and other aspects of our culture here