Senior Genomic Data Scientist; office locations

Senior Genomic Data Scientist (we have office locations in Cambridge, Leeds & London)

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.

• 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.

• 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.
• 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.

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.