Job summary
NHS East Genomic Laboratory Hub (EGLH) delivers the National Genomic Medicine Service for a population of 10 million in the East of England; this includes diagnostic, 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. The role allows for flexible, and potentially remote, working; 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.
About us
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.
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.
Job description
Job responsibilities
Please see the attached Applicant Information Pack (combined Job Description and Person Specification) for key duties and responsibilities.
This vacancy will close on 18th May 2023
Interviews are due to be held on 30th May 2023
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.
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.
Job description
Job responsibilities
Please see the attached Applicant Information Pack (combined Job Description and Person Specification) for key duties and responsibilities.
This vacancy will close on 18th May 2023
Interviews are due to be held on 30th May 2023
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.
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
- oDegree in bioinformatics or an appropriate biological science or equivalent experience oPostgraduate qualification in bioinformatics or an appropriate biological science or equivalent experience oHCPC clinical scientist registration or is working towards registration
Desirable
- oCompletion of Health Education England's Scientist Training Programme in Clinical Bioinformatics Genomics or equivalent training programme
Experience
Essential
- oHas developed bioinformatics tools and/or resources oHas implemented bioinformatics tools and/or resources oHas experience of performing specialist analysis and interpretation of genomic data oHas experience of performing bioinformatics analysis of next generation sequencing data oHas developed software using an object oriented language such as Python oHas developed relational databases with tools such as MySQL/MariaDB oHas experience of using tools such as R and pandas to perform programmatic statistical analysis of genomic data oHas experience of effective, structured project management
Desirable
- oHas experience of working within a diagnostic genomic laboratory oHas experience of specialist analysis and interpretation of genomic data in a healthcare setting oHas experience of using automated, repoducible workflow management systems oHas experience of performing bioinformatics analysis using cloud compute oHas developed software collaboratively using a version control system such as git oHas experience of clinical quality management systems oHas used project management and team collaboration tools such as JIRA and Confluence
Knowledge
Essential
- oBasic knowledge of human genetics and the effects of genetic variation oPractical knowledge of programming and coding oPractical knowledge of statistics for data analysis oKnowledge of next generation sequencing technologies oKnowledge and understanding of secondary bioinformatics analysis of data generated by next generation sequencing technologies oKnowledge and understanding of tertiary bioinformatics analysis of data generated by next generation sequencing technologies oKnowledge and awareness of the breadth of bioinformatics tools available for the analysis and interpretation of genomic data
Desirable
- oBroad knowledge and in-depth understanding of how different types genetic variation can lead to various genetic rare diseases and cancer oKnowledge of clinical requirements for bioinformatics applications used for diagnostic services oFamiliar with requirements for accreditation of bioinformatics processes to the ISO 15189 standard oIn-depth knowledge of best practice guidance for development and application of bioinformatics tools in clinical laboratories oApplied knowledge of good management practices oKnowledge of data security and information governance requirements for clinical data
Skills
Essential
- oWrite object-orientated code to a high standard oQuery databases programmatically oAlignment of next generation sequencing data oVariant calling from next generation sequencing data oProgrammatic annotation of variants. oProgrammatic filtering and prioritisation of variants oAssessment of impact and clinical interpretation of variants oOptimise bioinformatics tools for application in local pipelines oDevelop new bioinformatics tools oAnalyse complex genomics data to answer clinical bioinformatics questions oOrganise and manage delivery of complex projects oMaintain concentration and focus under pressure oProvide leadership to peers oDeliver training to colleagues oPresent complex scientific and clinical information to specialist and non-specialist audiences oGood verbal and written communication skills oCreate and accurately follow documentation and SOPs
Desirable
- oClinically evaluate software for use in delivery of diagnostic services oPerform code review and provide constructive feedback to peers to improve the quality of code oObserve and systematically examine processes to propose improvements for clinical service delivery oDevelop bioinformatics policy to guide the practice of clinical bioinformatics. oRespond to queries from end users of bioinformatics software and communicate effectively to resolve issues and deliver against requirements
Additional Requirements
Essential
- The ability to understand and behave at all times, towards patients, visitors and colleagues according to the Trust values of safe, kind, excellent.
Person Specification
Qualifications
Essential
- oDegree in bioinformatics or an appropriate biological science or equivalent experience oPostgraduate qualification in bioinformatics or an appropriate biological science or equivalent experience oHCPC clinical scientist registration or is working towards registration
Desirable
- oCompletion of Health Education England's Scientist Training Programme in Clinical Bioinformatics Genomics or equivalent training programme
Experience
Essential
- oHas developed bioinformatics tools and/or resources oHas implemented bioinformatics tools and/or resources oHas experience of performing specialist analysis and interpretation of genomic data oHas experience of performing bioinformatics analysis of next generation sequencing data oHas developed software using an object oriented language such as Python oHas developed relational databases with tools such as MySQL/MariaDB oHas experience of using tools such as R and pandas to perform programmatic statistical analysis of genomic data oHas experience of effective, structured project management
Desirable
- oHas experience of working within a diagnostic genomic laboratory oHas experience of specialist analysis and interpretation of genomic data in a healthcare setting oHas experience of using automated, repoducible workflow management systems oHas experience of performing bioinformatics analysis using cloud compute oHas developed software collaboratively using a version control system such as git oHas experience of clinical quality management systems oHas used project management and team collaboration tools such as JIRA and Confluence
Knowledge
Essential
- oBasic knowledge of human genetics and the effects of genetic variation oPractical knowledge of programming and coding oPractical knowledge of statistics for data analysis oKnowledge of next generation sequencing technologies oKnowledge and understanding of secondary bioinformatics analysis of data generated by next generation sequencing technologies oKnowledge and understanding of tertiary bioinformatics analysis of data generated by next generation sequencing technologies oKnowledge and awareness of the breadth of bioinformatics tools available for the analysis and interpretation of genomic data
Desirable
- oBroad knowledge and in-depth understanding of how different types genetic variation can lead to various genetic rare diseases and cancer oKnowledge of clinical requirements for bioinformatics applications used for diagnostic services oFamiliar with requirements for accreditation of bioinformatics processes to the ISO 15189 standard oIn-depth knowledge of best practice guidance for development and application of bioinformatics tools in clinical laboratories oApplied knowledge of good management practices oKnowledge of data security and information governance requirements for clinical data
Skills
Essential
- oWrite object-orientated code to a high standard oQuery databases programmatically oAlignment of next generation sequencing data oVariant calling from next generation sequencing data oProgrammatic annotation of variants. oProgrammatic filtering and prioritisation of variants oAssessment of impact and clinical interpretation of variants oOptimise bioinformatics tools for application in local pipelines oDevelop new bioinformatics tools oAnalyse complex genomics data to answer clinical bioinformatics questions oOrganise and manage delivery of complex projects oMaintain concentration and focus under pressure oProvide leadership to peers oDeliver training to colleagues oPresent complex scientific and clinical information to specialist and non-specialist audiences oGood verbal and written communication skills oCreate and accurately follow documentation and SOPs
Desirable
- oClinically evaluate software for use in delivery of diagnostic services oPerform code review and provide constructive feedback to peers to improve the quality of code oObserve and systematically examine processes to propose improvements for clinical service delivery oDevelop bioinformatics policy to guide the practice of clinical bioinformatics. oRespond to queries from end users of bioinformatics software and communicate effectively to resolve issues and deliver against requirements
Additional Requirements
Essential
- The ability to understand and behave at all times, towards patients, visitors and colleagues according to the Trust values of safe, kind, excellent.
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.
Applications from job seekers who require current Skilled worker sponsorship to work in the UK are welcome and will be considered alongside all other applications. For further information visit the UK Visas and Immigration website (Opens in a new tab).
From 6 April 2017, skilled worker applicants, applying for entry clearance into the UK, have had to present a criminal record certificate from each country they have resided continuously or cumulatively for 12 months or more in the past 10 years. Adult dependants (over 18 years old) are also subject to this requirement. Guidance can be found here Criminal records checks for overseas applicants (Opens in a new tab).
Additional information
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.
Applications from job seekers who require current Skilled worker sponsorship to work in the UK are welcome and will be considered alongside all other applications. For further information visit the UK Visas and Immigration website (Opens in a new tab).
From 6 April 2017, skilled worker applicants, applying for entry clearance into the UK, have had to present a criminal record certificate from each country they have resided continuously or cumulatively for 12 months or more in the past 10 years. Adult dependants (over 18 years old) are also subject to this requirement. Guidance can be found here Criminal records checks for overseas applicants (Opens in a new tab).