Genomics England successfully led the world-leading 100,000 Genomes Project, which compared and analysed individuals’ genetic codes to help diagnose, treat and prevent illness.
We're now accelerating our impact, working with the NHS to further develop and embed genomic healthcare and research in Britain. Our next chapter involves 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.
Our Lead Genomic Data Scientist is an experienced leader who is well embedded in the rare disease research community in UK, internationally, with strong competences in rare disease and overall germline genomics, algorithms for whole genome analysis and interpretation and data science.
Through proactive collaborations and agile practices, the Lead position brings technical leadership and people management capacity to implement the use whole genome sequencing in healthcare.
Based on a solid understanding of biomedical challenges and high-quality code, the Lead position directly contributes to the development of solutions and products that address the needs of our stakeholders.
Duties & Responsibilities
Manage, coach and mentor direct reports
Provide technical and scientific leadership in the areas of Rare Disease Genome Analysis at the chapter and squad levels
Development, implementation, and constant improvement of best practices for genome analysis at Genomics England
Driving end-to-end projects including planning, stakeholder engagement, problem solving, arriving to conclusions, documentation
Benchmarking and improving tools for processing, analysis and interpretation of whole genome data (e.g. alignment, variant callers, annotation, variant prioritisation, interpretation, quality control)
Ensure high relevance and excellent standards of genomic analysis.
Skills & Experience
Significant experience in leading cross-functional analytical team in academic or industry environment
Excellent knowledge and extensive experience in one or more areas of human germline DNA analysis, such as rare disease genomics, family-based analysis, genetic association testing, risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR
Up-to-date knowledge of tools and advances used in the bioinformatics and more generally machine learning applied to genomics challenges
Highly proficient in programming (Python, R)
Deep knowledge of key standards, data sources and tool chains used in NGS and clinical genomics
Good knowledge of statistics in genetic epidemiology context.
PhD degree or equivalent practical experience in academic or commercial settings.
The successful candidate will receive a competitive salary and benefits package along with the opportunity of working and collaborating with the best researchers and bioinformaticians in the UK.
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