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
Band 6
WHO WE ARE:
Cardiff and Vale University Health Board is one of the largest Integrated Health Boards 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 focused on the health and care needs of our local population whilst also working with our partners to develop regional services.
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.
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.
Working for our organisation
The All Wales Medical Genetics Service (AWMGS) provides a comprehensive clinical genetics and laboratory service 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.
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.
Person specification
Qualifications
* Honours degree in a computer science or health informatics discipline OR a relevant biological discipline with demonstrated abilities in informatics or computing.
* MSc degree or equivalent qualification in a relevant subject.
Experience
* 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
* 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
* 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.
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