SYNERGI Genomics Research Associate

We are seeking an experienced, enthusiastic Genomic Clinical Scientist to join the SYNERGI (South Yorkshire Nucleus for Exploratory Research in Genomics and Innovation) project at the University of Sheffield, working in partnership with the Sheffield Diagnostic Genetics Service (SDGS) at Sheffield Children's NHS Foundation Trust. This role combines genomic research with clinical diagnostic practice to improve diagnostic rates for children and families with undiagnosed rare genetic disorders. The postholder will analyse large-scale genomic and RNA sequencing datasets to identify candidate diagnoses and novel disease-associated genes using data from the 100,000 Genomes Project and the NHS Genomic Medicine Service (GMS). The role also contributes to clinical service delivery through variant interpretation, reclassification and report checking within the diagnostic genomics service. SDGS is part of the North East and Yorkshire Genomic Laboratory Hub (NEY GLH) and provides specialist genomic analysis and reporting for rare disease and oncology. The successful candidate will work across both the University and clinical service, contributing to research that informs clinical diagnostics and improves patient care. You will join a multidisciplinary team of clinicians, scientists and researchers committed to advancing genomic medicine. The role offers an exciting opportunity to apply research expertise in a translational environment while contributing to clinical genomic diagnostics and rare disease discovery. Main duties and responsibilities

• Lead research activities within the SYNERGI project aimed at improving diagnosis of rare genetic disorders through analysis of genomic and transcriptomic datasets.
• Design, develop and implement analyses on large-scale genomic datasets, including data from the 100,000 Genomes Project and NHS Genomic Medicine Service. This will include managing secure data access, developing computational workflows and ensuring appropriate data storage and governance.
• Analyse and interpret genomic variants in both research and clinical contexts, identifying candidate diagnoses and potential novel disease-associated genes. Contribute to variant prioritisation and interpretation using established clinical guidelines and bioinformatics tools.
• Contribute to clinical diagnostic service delivery within Sheffield Diagnostic Genetics Service (approximately 30% of the role). This includes variant interpretation, variant reclassification and checking and countersigning genomic reports to ensure the accuracy of results, statistical calculations and clinical interpretation.
• Collaborate with clinicians, laboratory scientists and researchers locally, regionally and nationally to support the development and delivery of genomic diagnostic services.
• Prepare and communicate research findings through reports, peer-reviewed publications and presentations at internal meetings and external conferences.
• Stay up to date with developments in genomic medicine, rare disease research and clinical genomics practice.
• Work independently and collaboratively within a multidisciplinary team to achieve project and service objectives.
• Contribute to supervision and mentoring of MSc and PhD students within the research group.
• Carry out other duties, commensurate with the grade and remit of the post.
  
  Registration as a Clinical Scientist or equivalent experience in genomic diagnostics with substantial experience of working within NHS diagnostic genetics service, Strong understanding of rare disease genetics and variant interpretation in research and clinical settings, Experience analysing genomic datasets, particularly whole genome sequencing data within the research setting, Experience using bioinformatics tools for genomic data analysis and variant prioritisation, Ability to manage large datasets and conduct computational genomic analyses, Proven ability to work collaboratively within multidisciplinary clinical and research teams, Strong written and verbal communication skills, including the ability to present complex findings clearly, Track record of contributing to peer-reviewed research publications in a relevant field, Experience working with the National Genomics Research Library, 100,000 Genomes Project or NHS Genomic Medicine Service datasets
  
  £38,784 - £46,049
Work arrangement Full-time - 70% funded by the University of Sheffield/30% funded by the Sheffield Children's NHS Foundation Trust Duration 01.09.2026-30.08.2031 Line manager Prof Meena Balasubramanian/ Dr Richard Kirk Direct reports Prof Meena Balasubramanian/ Dr Richard Kirk For informal enquiries about this job contact Dr Jenny Lord / Dr Renarta Crookes Next steps in the recruitment process It is anticipated that the selection process will take place in early to mid-June 2026. This will consist of an interview and presentation. We plan to let candidates know if they have been successful within a week after the interview. If you need any support, equipment or adjustments to enable you to participate in any element of the recruitment process you can contact the Staffing Team at smph-west-staffing@sheffield.ac.uk. Our vision and strategic plan We are the University of Sheffield. This is our vision: (opens in new window). What we offer
• A minimum of 41 days annual leave including bank holiday and closure days (pro rata) with the ability to purchase more.
• Flexible working opportunities, including hybrid working for some roles.
• Generous pension scheme.
• A wide range of discounts and rewards on shopping, eating out and travel.
• A variety of staff networks, providing opportunities for social interaction, peer support and personal development (for example, Race Equality, LGBT+, Women's and Parent's networks).
• Recognition Awards to reward staff who go above and beyond in their role.
• A commitment to your development access to learning and mentoring schemes; integrated with our Academic Career Pathways
• A range of generous family-friendly policies
• paid time off for parenting and caring emergencies
• support for those going through the menopause
• paid time off and support for fertility treatment
• and more
More details can be found on our benefits page: (opens in a new window). We are a Disability Confident Employer. If you have a disability and meet the essential criteria for this job you will be invited to take part in the next stage of the selection process. Criminal record A standard DBS check will be needed for this role. More details on the checks can be found on the Government website: (opens in a new window).