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:
Responsibilities
* 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.
Qualifications
* Experience in software testing strategies.
* Solid Python coding skillset.
* Solid skillset in Bioinformatics, understanding of the standards, data sources and tool chains used in NGS.
* Proficient in Linux and containerisation techniques (Docker, Singularity).
* Proficient in collaborative software development practices (code reviews, branching strategies).
* Excellent technical writing skills.
* Solid expertise of developing production quality algorithms and software to analyse large data sets.
* 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.
Legal & Compliance
Reasonable adjustments can be requested at interview stage if you have a disability or long‑term health condition which may impact on your ability to perform at an interview. Each adjustment requested is dependent upon your condition and how this would affect you in an interview. As part of our recruitment process, all successful candidates are subject to a Standard Disclosure and Barring Service (DBS) check. We therefore require applicants to disclose any previous offences at point of application, as some unspent convictions may mean we are unable to proceed with your application due to the nature of our work in healthcare. If you do not disclose a conviction that is identified on a DBS check, this may result in an offer of employment being withdrawn. This information may be shared with those internally who have a legitimate interest in the hiring process. Under the Rehabilitation of Offenders Act 1974 you will be asked whether you have an unspent criminal conviction and/or unspent conditional caution to declare.
Benefits
* 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.
Diversity & Inclusion
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.
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