Job overview
NHS East Genomic Laboratory Hub (EGLH) delivers the National Genomic Medicine Service for the region; this includes diagnostic, therapeutic, prognostic and predictive testing for rare diseases and cancers.
EGLH is seeking an experienced bioinformatician, who will develop and implement clinical-grade software for high throughput and high quality clinical genomics. Skills and experience in interpreting complex genomic data to answer clinical questions are valued. Our team provides best practice clinical bioinformatics through our cloud-infrastructure. The role includes training, supervision and supporting clinical services. You will work with a wide range of personnel in the EGLH region and nationally.
Experienced candidates without professional registration are encouraged to apply; training and support will be provided; please contact us to discuss this, or any other aspect of the job.
Main duties of the job
Specialist analysis of genomic data: secondary and tertiary bioinformatics; includes interpretation and reporting of diagnostic results
Continued improvement of specialist clinical bioinformatics tools, processes and workflows for delivery of genomic diagnostic services
Development of novel specialist clinical bioinformatics tools processes and workflows for delivery of genomic diagnostic services
Investigation and resolution of complex bioinformatics issues by specialist examination of input & output data, and associated
bioinformatics processes; includes communication to technical, scientific and clinical staff
Planning and management of bioinformatics development projects; includes interfacing with technical, scientific and clinical functions of
the genomic laboratory
Planning and delivery of specialist and non-specialist training in clinical bioinformatics to bioinformaticians, technologists and scientists
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 11000 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.
Benefits to you
We offer development opportunities and a wide range of benefits including on-site leisure facilities, shopping concourse, day nurseries and access to a great transport system with easy access to airports and rail travel.
For further details of our fantastic benefits please refer to the attachment below - CUH Benefits.
Please note if you would like to discuss the required hours of this role further, you should approach the contact given. In some cases alternative working hours will be considered.
We welcome applications from the Armed Forces.
Detailed job description and main responsibilities
Please see the attached Applicant Information Pack (combined Job Description and Person Specification) for key duties and responsibilities.
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·Due to Home Office immigration rules, a full time permanent vacancy cannot be filled by individuals on a Student visa. Therefore, please be advised that if you are a Student visa holder, we will not be able to offer you a full time permanent contract unless you have:
-applied for a Graduate visa
-or you will have successfully completed your course and have applied for a Graduate visa before the anticipated start date of your employment
-or the Trust has agreed that they will Sponsor you as a Skilled Worker and you will complete your studies within 3 months of the anticipated start date of employment
This vacancy will close at midnight on the 13th of January.
Benefits to you
At Cambridge University Hospitals, we want to do all we can to support good working days. We offer development opportunities and a wide range of benefits, including on-site leisure facilities, shopping concourse and day nurseries. Our good work programme currently includes providing reduced cost Stagecoach bus travel to and from Cambridge University Hospital site. Park and Ride bus journeys between Babraham Road and Trumpington sites are free, as is the route to and from Cambridge train station and our hospitals. We also subsidise the cost of parking on site for eligible staff.
On CUH campus, hot food is available 24/7 and at a reduced cost for colleagues. Recently we launched the first of our staff pod break spaces. Located in the Deakin Centre, we have a purpose-created colleague-only café, with free tea and coffee, a break space and private outside area for colleagues to rest, refuel and recharge. Just one of the ways we are working hard to support good working days at CUH.
CUH is committed to assisting employees in achieving a good work-life balance irrespective of role or personal circumstances. Flexible arrangements may include, but are not limited to, part-time working, job-share, term-time working and flexible start and finish times.
Please note if you would like to discuss the required hours of this role further, you should approach the contact given. In some cases, alternative working hours will be considered.
We welcome applications from the Armed Forces.
Person specification
Qualifications
Essential criteria
•Degree in bioinformatics or an appropriate biological science or equivalent experience
•Postgraduate qualification in bioinformatics or an appropriate biological science or equivalent experience
•HCPC clinical scientist registration or is working towards registration
Desirable criteria
•Completion of Health Education England’s Scientist Training Programme in Clinical Bioinformatics Genomics or equivalent training programme
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 developed software using an object oriented language such as Python
•Has developed relational databases with tools such as MySQL/MariaDB
•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, repoducible 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.
Employer certification / accreditation badges
Applicant requirements
You must have appropriate UK professional registration.
Documents to download
Apply online now
Further details / informal visits contact
Name
Joo Wook Ahn
Job title
Lead Bioinformatician
Email address
joowook.ahn1@nhs.net