Are you an experienced genomics researcher or clinical scientist with experience in variant interpretation and genomic data analysis who wants to make a real difference for children and families with rare diseases? We have an exciting opportunity to join the SYNERGI (South Yorkshire Nucleus for Exploratory Research in Genomics and Innovation) project at the University of Sheffield, working closely with the Sheffield Diagnostic Genetics Service (SDGS) at Sheffield Children’s NHS Foundation Trust.

In this unique clinical-academic role, you will use your expertise in genomics, bioinformatics and rare disease genetics to help identify diagnoses for patients who currently remain undiagnosed. Working with large-scale datasets including the 100,000 Genomes Project and NHS Genomic Medicine Service, you will analyse genomic and RNA sequencing data to identify candidate variants and discover potential new disease-associated genes.

We are looking for someone with experience in genomic data analysis, variant prioritisation and interpretation, ideally using ACMG classification guidelines. You might be a registered Clinical Scientist, a genomic data analyst, or a researcher with strong experience in rare disease genomics. If you enjoy working at the intersection of research and clinical impact, this role offers an exciting opportunity to translate genomic discovery directly into improved patient care.

You will join a collaborative and multidisciplinary team of clinicians, clinical scientists, bioinformaticians and researchers across the University of Sheffield and the regional North East and Yorkshire Genomic Laboratory Hub. Together we are working to improve diagnostic rates for rare genetic conditions and advance genomic medicine.

In this varied role you will:

• Analyse large-scale genomic and RNA sequencing datasets to identify candidate diagnoses and novel disease genes.
• Contribute to clinical genomic diagnostics, including variant interpretation and reclassification.
• Work with clinicians and scientists to translate research findings into improved diagnostic practice.
• Publish research findings and present your work at national and international conferences.
• Contribute to mentoring and supervision of postgraduate students.

This role offers an excellent opportunity to develop your skills in translational genomics, rare disease research and clinical variant interpretation while working on datasets and technologies that are shaping the future of genomic medicine.