Bioinformatician

NHS; Cardiff; On-site; GBP 35,000 - 55,000; Full time

Job description

Cardiff and Vale University Health Board

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.

About us

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

Job 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

• 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

Disclosure and Barring Service Check

This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975 and as such it will be necessary for a submission for Disclosure to be made to the Disclosure and Barring Service (formerly known as CRB) to check for any previous criminal convictions.

Address

Wales Genomic Health Centre
Cardiff Edge Business Park, Longwood Drive