Company Description
Genomics England partners 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 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.
Job Description
We are seeking a Senior Genomic Data Scientist to lead the integration of critical genomic data annotation sources into our clinically accredited bioinformatics pipelines.
This position aims to bridge the gap between cutting-edge genomic research and its application in genomic medicine. You will work within a large, cross-disciplinary team supporting the NHS Genomic Medicine Service, the Generation Study sequencing 100,000 newborns, and other groundbreaking initiatives.
The role offers support in developing a deep understanding of Genomics England’s healthcare services while empowering you to optimise data integration for diagnostic impact, scientific validity, automation, and regulatory compliance.
You will also explore new technologies to ensure genomic data sources are integrated effectively, updated reliably, and maintained to the highest clinical and scientific standards.
Everyday responsibilities include:
Assess and benchmark public genome annotation resources and tools, conducting custom computational analyses on whole genome sequencing datasets.
Work collaboratively with specialists across disciplines to define future annotation needs and evaluate emerging technology solutions.
Support the development and implementation of annotation tools into product planning, including validation, testing, and impact assessment.
Collaborate with Bioinformatic Engineers on data validation pipelines and quality assurance processes.
Partner with teams across Genomics England to understand genomic science applications and variant annotation requirements.
Research scientific literature and explore innovative approaches to genome annotation within the context of medical genomics. Skills and experience for success:
Experience in one or more areas of human germline DNA analysis, such as rare disease genomics, population genetics, family-based analysis, genetic association testing, risk score prediction, structural variation, pharmacogenomics, or complex genomic regions such as HLA/KIR.
A deep understanding of resources used in human genome variation interpretation, including both databases and tools.
A problem-solving mindset, being curious about the details and in thinking and suggestion new ways of tackling complex problems with a broad range of experts in informatics, engineering, quality assurance and risk management.
Hands-on experience with a wide range of bioinformatic techniques, especially in whole genome sequencing, and a proven track record of leading genomic research projects from conception to successful delivery, demonstrated by publications or other tangible outcomes.
Excellent programming skills, particularly Python, with experience in cloud-scale data processing or/and high-performance computing. Desirable skills:
Prior experience of working in highly collaborative, cross disciplinary environments.
Experience of variant annotation engine software (VEP, Cellbase etc) and the challenges of data updates and validation as relates to scientific or healthcare use cases.
Demonstratable interest in automation technologies or AI to solve problems and improve the speed of highly validated data.
Qualifications
PhD with postdoctoral experience, or equivalent experience, in at least one of the following: Genetics/Genomic with a strong computational component, Statistical genetics, Genetic epidemiology or Bioinformatics with the focus on human genomics.
Additional Information
Salary from: £62,000
Closing date for applications: Monday 8th December
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
