Translational Research Bioinformatician

Job overview

Opportunity for a translational research bioinformatician to support the NHS Genomics Networks of Excellence project: rapid whole genome sequencing and methylation to enable precision treatments in childhood cancer. The role will include processing Illumina TruPath genome data through secondary and tertiary analysis pipelines, preparing results for MDT discussion, operating in a regulated clinical bioinformatics environment. Applicants are expected to have experience working with large, complex data within clinically-relevant timelines.

This is an 18-month contract (finishing March 2028)

Main duties of the job

1. Development of specialist clinical bioinformatics tools and workflows
2. Specialist analysis of genomic data: secondary and tertiary bioinformatics
3. Continued improvement of specialist clinical bioinformatics tools processes and workflows for delivery of genomic diagnostic services
4. Investigation and resolution of complex bioinformatics issues by specialist examination of input & output data, and associated bioinformatics processes; includes communication with technical, scientific and clinical staff
5. Planning and management of bioinformatics development projects; includes interfacing with technical, scientific and clinical functions of the genomic laboratory
6. Contribution to and facilitation of appropriate local and national data sharing programmes

Working for our organisation

Our Trust

Cambridge University Hospitals (CUH) NHS Foundation Trust comprises Addenbrooke's Hospital and the Rosie Hospital in Cambridge. With over 13,000 staff and over 1100 beds the priorities of the Trust focus on a quality service which is all about people - patients, staff and partners. Recognised as providing 'outstanding' care to our patients and rated 'Good' overall by the Care Quality Commissioner, is testament to the skill and dedication of the people who work here. CUH's values - Together - Safe, Kind, Excellent - are at the heart of patient care, defining the way all staff work and behave. The Trust provides accessible high-quality healthcare for the local people of Cambridge, together with specialist services, dealing with rare or complex conditions for a regional, national and international population.

CUH is committed to promoting a diverse and inclusive community - a place where we can all be ourselves. We value our differences and fully advocate and support an inclusive working environment where every individual can fulfil their potential. We want to ensure our people are truly representative of all the communities that we serve. We welcome applications for all positions in the organisation irrespective of people's age, disability, ethnicity, race, nationality, gender identity, sex, sexual orientation, religion or belief, marriage and civil partnership status, or pregnancy and maternity status or social economic background.

Person specification

Qualifications

Essential criteria

• Postgraduate degree / PhD in bioinformatics,
• Postgraduate qualification in bioinformatics or an appropriate biological science or equivalent experience with skills in developing new workflows and pipelines

Desirable criteria

• Completion of Health Education England's Scientist Training Programme in Clinical Bioinformatics Genomics or equivalent training programme
• HCPC clinical scientist registration or is working towards registration

Experience

Essential criteria

• Has developed bioinformatics tools and/or resources
• Has implemented bioinformatics tools and/or resources
• Has experience of performing specialist analysis and interpretation of genomic data
• Has experience of performing bioinformatics analysis of next generation sequencing data
• Has experience of using tools such as R and pandas to perform programmatic statistical analysis of genomic data
• Has experience of effective, structured project management

Desirable criteria

• Has experience of working within a diagnostic genomic laboratory
• Has experience of specialist analysis and interpretation of genomic data in a healthcare setting
• Has experience of using automated, reproducible workflow management systems Has experience of performing bioinformatics analysis using cloud compute
• Has developed software collaboratively using a version control system such as git
• Has experience of clinical quality management systems
• Has used project management and team collaboration tools such as JIRA and Confluence

Knowledge

Essential criteria

• Basic knowledge of human genetics and the effects of genetic variation
• Practical knowledge of programming and coding
• Practical knowledge of statistics for data analysis
• Knowledge of next generation sequencing technologies
• Knowledge and understanding of secondary bioinformatics analysis of data generated by next generation sequencing technologies
• Knowledge and understanding of tertiary bioinformatics analysis of data generated by next generation sequencing technologies
• Knowledge and awareness of the breadth of bioinformatics tools available for the analysis and interpretation of genomic data

Desirable criteria

• Broad knowledge and in-depth understanding of how different types genetic variation can lead to various genetic rare diseases and cancer
• Knowledge of clinical requirements for bioinformatics applications used for diagnostic services
• Familiar with requirements for accreditation of bioinformatics processes to the ISO 15189 standard
• In-depth knowledge of best practice guidance for development and application of bioinformatics tools in clinical laboratories
• Applied knowledge of good management practices
• Knowledge of data security and information governance requirements for clinical data

Skills

Essential criteria

• Write object-orientated code to a high standard
• Query databases programmatically
• Alignment of next generation sequencing data
• Variant calling from next generation sequencing data
• Programmatic annotation of variants
• Programmatic filtering and prioritisation of variants
• Assessment of impact and clinical interpretation of variants
• Optimise bioinformatics tools for application in local pipelines
• Develop new bioinformatics tools
• Analyse complex genomics data to answer clinical bioinformatics questions
• Organise and manage delivery of complex projects
• Maintain concentration and focus under pressure
• Provide leadership to peers
• Deliver training to colleagues
• Present complex scientific and clinical information to specialist and non-specialist audiences
• Good verbal and written communication skills
• Create and accurately follow documentation and SOPs

Desirable criteria

• Clinically evaluate software for use in delivery of diagnostic services
• Perform code review and provide constructive feedback to peers to improve the quality of code
• Observe and systematically examine processes to propose improvements for clinical service delivery
• Develop bioinformatics policy to guide the practice of clinical bioinformatics
• Respond to queries from end users of bioinformatics software and communicate effectively to resolve issues and deliver against requirements

Additional Requirements

Essential criteria

• The ability to understand and behave at all times, towards patients, visitors and colleagues according to the Trust values of safe, kind, excellent.
• Able to maintain self-control in difficult and challenging situations.
• Self-confidence and resilience.

Documents to download

• Applicant Information Pack (PDF, 192.7KB)