Overview 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. Responsibilities

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.

Qualifications

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, curiosity about details, and a willingness to suggest 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 high‑performance computing.

Desirable Skills

Prior experience of working in highly collaborative, cross‑disciplinary environments. Experience with variant annotation engine software (VEP, Cellbase, etc.) and the challenges of data updates and validation in scientific or healthcare use cases. Demonstrated interest in automation technologies or AI to solve problems and improve the speed of highly validated data. PhD with post‑doctoral experience, or equivalent experience, in one of the following: Genetics/genomics with a strong computational component, statistical genetics, genetic epidemiology or bioinformatics with a focus on human genomics.

Benefits

Generous Leave: 30 days’ holiday plus bank holidays, additional leave for long service, and 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%, you can contribute more if you wish), life assurance (3× 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, free Headspace account and access to an Employee Assistance Programme, eye tests, flu jabs.

Salary and Application Salary from £62,000. Closing date for applications: Monday 8th December. Equal Opportunities Genomics England is actively committed to providing and supporting an inclusive environment that promotes equity, diversity and inclusion best practice. We are proud of our diverse community where everyone can come to work and feel welcomed and treated with respect regardless of disability, ethnicity, gender identity, religion, sexual orientation or social background. Our policies of non‑discrimination and equity apply fairly to all people, regardless of age, disability, gender identity, marital or civil partnership status, pregnancy, race, religion, sexual orientation, length of service, part‑time status or any other factor. We do not tolerate any form of discrimination, harassment, victimisation or bullying at work. #J-18808-Ljbffr