At a Glance
- Tasks: Lead genomic research to improve diagnosis of rare genetic disorders and analyse large-scale datasets.
- Company: Join the University of Sheffield's SYNERGI project, partnering with Sheffield Children's NHS Foundation Trust.
- Benefits: Competitive salary, collaborative environment, and opportunities for professional growth.
- Other info: Be part of a diverse team dedicated to advancing clinical genomics and patient care.
- Why this job: Make a real impact in genomic medicine and help families with undiagnosed genetic disorders.
- Qualifications: Experience in genomic diagnostics and strong understanding of rare disease genetics required.
The predicted salary is between 38784 - 46049 € per year.
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.
- Manage secure data access, develop computational workflows and ensure 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).
- 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.
SYNERGI Genomics Research Associate in Sheffield employer: The University of Sheffield
The University of Sheffield, in collaboration with the Sheffield Children's NHS Foundation Trust, offers a dynamic and inclusive work environment for the SYNERGI Genomics Research Associate role. Employees benefit from a strong focus on professional development, access to cutting-edge genomic research, and the opportunity to make a meaningful impact on patient care through innovative diagnostic practices. With a commitment to fostering a diverse community, the university encourages collaboration across disciplines, ensuring that every team member's contributions are valued and respected.
Contact Detail:
The University of Sheffield Recruiting Team
StudySmarter Expert Advice🤫
We think this is how you could land SYNERGI Genomics Research Associate in Sheffield
✨Tip Number 1
Network like a pro! Reach out to professionals in the genomics field on LinkedIn or at conferences. A friendly chat can lead to opportunities that aren’t even advertised yet.
✨Tip Number 2
Show off your skills! Prepare a portfolio of your past projects, especially those involving genomic data analysis. This will give you an edge during interviews and showcase your hands-on experience.
✨Tip Number 3
Practice makes perfect! Conduct mock interviews with friends or mentors. Focus on explaining complex genomic concepts clearly, as communication is key in this role.
✨Tip Number 4
Apply through our website! It’s the best way to ensure your application gets noticed. Plus, we love seeing candidates who are proactive about their job search.
We think you need these skills to ace SYNERGI Genomics Research Associate in Sheffield
Some tips for your application 🫡
Tailor Your Application:Make sure to customise your application to highlight how your experience aligns with the role. Use keywords from the job description to show that you understand what we're looking for.
Showcase Your Skills:Don’t just list your qualifications; demonstrate how you've applied them in real-world scenarios. We want to see your problem-solving skills and how you’ve tackled challenges in genomic diagnostics.
Be Clear and Concise:Keep your writing straightforward and to the point. We appreciate clarity, so avoid jargon unless it’s relevant. Make it easy for us to see your strengths and experiences.
Apply Through Our Website:We encourage you to submit your application through our website. It’s the best way to ensure we receive all your details correctly and can process your application smoothly.
How to prepare for a job interview at The University of Sheffield
✨Know Your Genomics
Make sure you brush up on your knowledge of genomic diagnostics and rare disease genetics. Familiarise yourself with the 100,000 Genomes Project and NHS Genomic Medicine Service datasets, as these will be crucial in your role. Being able to discuss specific examples of how you've used genomic data in past projects will really impress the interviewers.
✨Showcase Your Analytical Skills
Prepare to talk about your experience with analysing large-scale genomic datasets. Be ready to explain the bioinformatics tools you've used for variant prioritisation and how you've applied ACMG guidelines in your work. Providing concrete examples of your computational analyses will demonstrate your capability and confidence in this area.
✨Collaboration is Key
This role involves working with a multidisciplinary team, so highlight your collaborative experiences. Think of instances where you've successfully worked alongside clinicians, laboratory scientists, or researchers. Sharing stories that showcase your teamwork skills will help convey that you're a great fit for their collaborative environment.
✨Communicate Clearly
Strong communication skills are essential, especially when presenting complex findings. Practice explaining your research in simple terms, as if you were talking to someone outside your field. This will not only help you in the interview but also in your future role when communicating with diverse audiences.
