Job summary
- Main area
- Genetics
- Grade
- Band 6
- Contract
- Fixed term: 2 years (This is a new position fixed for 2 years, 50% of the funding is provided by the WCRC.)
- Hours
- Full time - 37.5 hours per week
- Job ref
- 001-HS013-0425
- Employer
- Cardiff and Vale University Health Board
- Employer type
- NHS
- Site
- Wales Genomic Health Centre
- Town
- Whitchurch, Cardiff
- Salary
- £37,898 - £45,637 per annum
- Salary period
- Yearly
- Closing
- 16/04/2025 23:59
Employer heading

Bioinformatician
Band 6
WHO WE ARE:
Cardiff and Vale University Health Board is one of the largest Integrated Health Board in the UK, employing over 16,000 staff and providing over 100 specialist services. Serving a population of around 500,000 people living in Cardiff and the Vale of Glamorgan, we are focussed on the health and care needs of our local population whilst also working with our partners to develop regional services. Together we are committed to improving health outcomes for everyone and to delivering excellent care and support.
Our mission is “Living Well, Caring Well, Working Together”. We have recently refreshed our strategy, Shaping Our Future Wellbeing, which sets out the Health Board’s Vision for improving the health and wellbeing of the populations we serve by 2035 through the delivery of our strategic objectives; Putting People First, Providing Outstanding Quality, Delivering in the Right Places, and Acting for the Future. We have challenging times ahead, but we are confident that by tackling these challenges together, we can support people to live healthier lives and reduce the unfair differences in the prevalence of illness and health outcomes we see in our communities today. We aspire to deliver outstanding care and treatment for people when they need it, where they need it; care that compares well with the best in the world, but to do so, we need to transform how we deliver services over the next decade and beyond.
We are a values-driven organisation and out goals will only be realised if our values are at the heart of everything we do. Created by colleagues, patients and their families and carers, our values are:
· We are kind and caring
· We are respectful
· We have trust and integrity
· We take personal responsibility
OUR REGION:
Wales has much to offer with miles of stunning coastline, UNESCO world heritage sites and beautiful countryside. Cardiff, the thriving Welsh capital, has something for everyone. It is a fantastic city to live and work in with an abundance of sports, arts and cultural attractions. Situated to the west of Cardiff, the Vale of Glamorgan offers a combination of beautiful Welsh countryside and a dramatic natural coastline, as well as charming towns including Penarth and Cowbridge. Those seeking more culture may find themselves drawn to the National Museum, St Fagan’s Museum of Welsh Life or the Millennium Centre, home of the Welsh National Opera. Whether city life or rural living, Cardiff and the Vale offers the best of both worlds.
Please be advised that there is a temporary top up for Bands 2 and 3 to reflect the incorporation of the top up to the living wage of £12.60 per hour - £24,638 per annum.
This temporary top up will be in place until the annual pay uplift for 2025/26 is confirmed
Job overview
An exciting opportunity has arisen for a suitably qualified Bioinformatician to join a collaborative team working between the All Wales Medical Genomics Service (AWMGS) and the Division of Cancer and Genetics, Cardiff University. This position focuses on supporting the development and implementation of structural variant (SV) analysis in clinical diagnostics as part of the NHS.
This is a 2-year fixed term, full time post based at Canolfan Iechyd Genomig Cymru/ Wales Genomic Health Centre, working flexibly for 37.5 hours per week.
Main duties of the job
The post-holder will be responsible for the analysis of genomic data and the development of new analytical software, and will work closely with the team of Clinical Scientists, Researchers and Clinicians. The All Wales Medical Genomics Laboratory (AWMGS) has a wide range of clinical tests including Whole Genome Sequencing, Whole Exome Sequencing and large cancer panels such as TSO500.
Specifically, the role will involve building and applying bioinformatics pipelines to analyse structural variants, contributing to their integration into diagnostic pathways. This work has the potential to improve patient care in Wales and beyond. You will also contribute to wider genomics initiatives and collaborate with other team members on technical and analytical challenges.
AWMGS is hosted by the Cardiff & Vale University Health Board. Together with Cardiff University, Wales Gene Park and the Welsh Government they are working to deliver the Welsh Government Genomics for Precision Medicine Strategy for patients within Wales. This is a highly exciting and innovative strategy with opportunities for staff, healthcare professionals across Wales, patients and the public.
Our values guide the way we work and the way we behave with others. Post holders will be expected at all times to behave in accordance with our values demonstrating commitment to the delivery of high-quality services to patients.
This post is fixed term for 24 months due to - meet the needs of the service.
Working for our organisation
The All Wales Medical Genetics Service (AWMGS) provides a comprehensive clinical genetics and laboratory service clinical genetics services to the 3 million residents of
Wales. The Directorate encourages personal development and you will be expected to take an active part in the appraisal process. Not only is this a busy and challenging specialty but you would also be joining a friendly, dedicated team in Medical Genetics.
We are looking for individuals who share the core values of the organisation:
· We care about the people we serve and the people we work with
· We trust one another
· We respect each other
· We take personal responsibility
· We treat people with kindness
· We act with integrity
Detailed job description and main responsibilities
You will be able to find a full Job description and Person Specification attached within the supporting documents or please click “Apply now” to view in Trac.
The ability to speak Welsh is desirable for this post; Welsh and/or English speakers are equally welcome to apply.
Person specification
Qualifications
Essential criteria
- Honours degree in a computer science or health informatics discipline OR a relevant biological discipline with demonstrated abilities in informatics or computing.
Desirable criteria
- MSc degree or equivalent qualification in a relevant subject.
Experience
Desirable criteria
- Experience in IT, applications, developments, processes and organisation
- Experience of molecular genetics, diagnostic genetics services or similar.
- Experience of working with next-generation sequencing data
skills
Essential criteria
- Good critical and innovative thinking skills, and the ability to develop and implement innovative systems or ideas.
- Experience of software development, testing, introduction, maintenance and support
- Good verbal and written communication skills.
- Experience of understanding needs of stakeholders, ideally within health service delivery.
- Knowledge of database design, development and administration
Special Knowledge
Essential criteria
- Knowledge of principles of molecular biology & clinical molecular genetics.
- Knowledge of molecular diagnostic tests for human inherited disorders.
- Knowledge of bioinformatic tools, resources and techniques applied to human genetics
- Analysis of genome sequence using internet resources
- Knowledge of basic molecular biology techniques
- Good knowledge of modern programming languages
- Good knowledge of modern web development technologies
Applicant requirements
Welsh language skills are desirable
Documents to download
Further details / informal visits contact
- Name
- Erik Waskiewicz
- Job title
- Head of Cancer Bioinformatics
- Email address
- [email protected]
- Additional information
Kez Cleal, [email protected]
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