Overview
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.
Person Specification
Our diverse community of staff and students recognises the unique abilities, backgrounds, and beliefs of all. We foster a culture where everyone feels they belong and are respected. Even if your past experience doesn't match perfectly with this role's criteria, your contribution is valuable, and we encourage you to apply. Please ensure that you reference the application criteria in the application statement when you apply.
Essential Criteria
* 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.
* Knowledge and practical use of ACMG guidelines for variant classification.
* 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.
Salary
£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
Criminal Record
A standard DBS check will be needed for this role. Possession of a criminal record is not an automatic bar to employment at the University of Sheffield. We recognise the value of steady employment in the rehabilitation process and examine each case in its own right.
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