Company Description Genomics Englandpartners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments – with patients and participants at the heart of it all. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. We areaccelerating our impactand 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. Job Description We are seeking a Bioinformatics Engineer that will be based in the Diagnostic Discovery team on a 12 month fixed term contract. You will be responsible for developing and maintaining software tools and datasets that support a wide range of bioinformatics applications, ensuring their high quality and robustness by adhering to best practices in software design, development, and testing. In this position, you will be an effective member of the Diagnostic Discovery team helping to increase the number of candidate new diagnoses returned to NHS laboratories for patients and participants in Genomics England programmes by performing the day-to-day responsibilities described below. Everyday responsibilities include: • Explore new approaches and resources for analysing genomic data to improve Diagnostic Discovery analysis. • Perform complex data queries to identify candidate diagnoses. • Produce high-quality code for high throughput sequencing data analysis, genome analysis and interpretation. • Produce automated tests to validate existing and new code. • Interact with bioinformatics and clinical teams, research community, NHS Genomic Laboratory Hubs. • 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 & Experience for Success: • Excellent Python coding skillset. • Experience in software testing strategies or desire to learn this skillset. • Solid skillset in Bioinformatics, understanding of the standards,data sources and tool chains used in NGS and clinical genomics. • Proficient in software version control systems (Git preferred). • Proficient in collaborative software development practices (code reviews, branching strategies). • Familiarity with NGS tertiary annotation tools and databases. • Proficient in Linux and containerisation techniques (Docker, Singularity). • Solid expertise of developing production quality algorithms and software to analyse large data sets. • Excellent technical writing skills. • Experience working in agile environments is desirable. • Experience in building code using CI/CD is desirable. • Familiarity with AWS technologies is desirable. • Familiarity with SQL for complex queries is desirable. Qualifications MSc equivalent or higher in Software Engineering, Computer Science, Bioinformatics or equivalent experience. Additional Information Salary from: £56,000 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 is contrary to our virtues, 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. Blended working model Genomics England operates a blended working modelas we know our people appreciate the flexibility that hybrid working can bring.We expect most people to come into the office a minimum of 2 times each month.However, this will vary according to role and will be agreed with your team leader. There is no expectation that people will return to the office full time unless they want to, however, some of our roles require full time on site attendancee.g., lab teams, reception team. Our teams and squads have, and will continue to reflect on what works best for them to work together successfully and have the freedom to design working patterns to suit, beyond the minimum.Our office locations are: Canary Wharf, Cambridge and Leeds. Onboarding background checks 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.