Guy's and St Thomas' is among the UK's busiest and most successful NHS foundation trusts. We provide a full range of hospital and community services for people in south London and as well as specialist care for patients from further afield including cancer, renal, orthopaedic, respiratory and cardiovascular services.
Guy's is home to the largest dental school in Europe and a £160 million Cancer Centre opened in 2016. As part of our commitment to provide care closer to home, in 2017 we also opened a cancer centre and a kidney treatment centre at Queen Mary's Hospital in Sidcup. St Thomas' has one of the largest critical care units in the UK and one of the busiest emergency departments in London. It is also home to Evelina London Children's Hospital.
Evelina London cares for local children in Lambeth and Southwark and provides specialist services across south east England including cardiac, renal and critical care services. We lead a number of specialist service networks aiming to ensure children are treated locally where possible, but have access to specialist expertise when they need it. Our community services include health visiting, school nursing and support for families of children with long-term conditions.
Our adult community services teams deliver care at the heart of the local communities we serve, working in partnership with GPs, local authorities and other healthcare and voluntary sector organisations. Working with our partners in Lambeth and Southwark, we are focusing on new ways of working to improve care for local patients.
In February 2021 the Royal Brompton and Harefield joined Guy's and St Thomas' NHS Foundation Trust, bringing together world-leading expertise in the care and research of heart and lung disease. Our merger provides a once in a generation opportunity to build a lasting, world-renowned heart and lung centre, providing the highest quality care for patients and conducting world-leading research.
We have a reputation for clinical excellence and high quality teaching and research. We are part of King's Health Partners, one of eight accredited UK academic health sciences centres. In partnership with King's College London we have dedicated clinical research facilities including an MHRA accredited Phase I clinical trials unit.
Patients are at the heart of everything we do and we pride ourselves on ensuring the best possible patient experience as well as safe, high quality care. We are proud to have one of the lowest mortality rates in the NHS. Following a comprehensive Care Quality Commission (CQC) inspection in 2019 we maintained our overall rating of 'good'. Our adult community services achieved a rating of 'outstanding'.
The commitment of our 23,500 staff is key to our success. We are one of the largest local employers and we aim to develop and support all our staff so they are able to deliver high quality, safe and efficient care. The 2019 NHS staff survey results show that we have one of the most engaged and motivated workforces in the NHS. We know this has a positive impact on the care provided to our patients.
We have one of the most ambitious capital investment programmes anywhere in the NHS.
Job overview
Applications are invited for a Bioinformatician based in the Clinical Genetics and Genomics Laboratory in the Royal Brompton Hospital. The applicant will be part of the bioinformatics team responsible for the delivery of the genetics diagnostic service, as well as be involved in the development of further bioinformatics pipelines and tools in order to expand the spectrum of genetics tests using Next-Generation and Long-Read Sequencing, as well as other assays. The post-holder will optimally have some background in human molecular genetics and bioinformatics and will take responsibility for automated DNA sequence annotation and variant detection, interpretation and collation of variants, report generation, database development, implementation of visualisation tools and data warehousing and they will have experience in delivering bioinformatics training and STP curriculum. They will be responsible for optimising and streamlining workflows with integrated pipelines to simplify and speed up data analysis for a large and growing dataset, developing tools to aid the services whilst ensuring alignment with UKAS accreditation. The post-holder are expected to have experience in delivering bioinformatics training and STP curriculum.
Main duties of the job
* To take an active role in the continued development and implementation of automated pipelines for DNA variant annotation and data reporting for the analysis of genetic variants which underlie inherited disorders
* Assist with the development and implementation of Standard Operating Procedures (SOPs)
* Assist and perform regulatory audits and inspections towards UKAS accreditation
* Work closely with referring clinicians, clinical scientists, genetic technologists and research assistants in the group
* Be responsible for high quality and high throughput data analysis, documentation and presentation of results
* Update and curate software and annotation resources in use by the Clinical Genetics and Genomics Laboratory
* Participate in the selection, procurement, maintenance and servicing of all hardware and software used by the group People management
* Contribute towards the development of skills in data analysis in diagnostics and research
* Participate in the delivery of bioinformatic training and education to students
* To validate and perform quality control of analytical methods for variant detection and annotation in a diagnostic setting
* Develop software tools to mine and visualise genomics data
* To actively participate in group diagnostic and research meetings and internal seminars
Working for our organisation
The Royal Brompton & Harefield Hospitals are part of Guy's and St. Thomas' NHS Foundation Trust, with the Heart and Lung Clinical Care Group forming the largest heart and lung centre in the UK and among the largest in Europe. We are a partnership of specialist hospitals which are known throughout the world for our expertise, standard of care and research success. The Clinical Genetics and Genomics Laboratory is also part of the NHSE South East Genomic Laboratory hub and is one of four cardiac and one of three respiratory laboratories, delivering the specialist testing nationally.
The Clinical Genetics and Genomics Laboratory in the Royal Brompton has generated deep expertise in cardiovascular (CV) and respiratory genetics through a large programme of work over the last 7 years and has established infrastructure, expertise and variant repositories on site. The CGGL has developed sophisticated bioinformatic tools and pipelines for the analysis and reporting of different types of sequence data and is actively involved in research to develop new technologies. The diagnostic service collaborates closely with the National Heart and Lung Institute (NHLI), Imperial College London.
Organisational Values:
Our values help us to define and develop our culture, what we do and how we do it. It is important that you understand and reflect these values throughout your employment with the Trust.
Detailed job description and main responsibilities
* To take an active role in the continued development and implementation of automated pipelines for DNA variant annotation and data reporting for the analysis of genetic variants which underlie inherited disorders.
* Develop, monitor and assess systems to ensure that diagnostics and research is conducted in accordance with Good Clinical Practice (GCP) and Clinical and Research Governance.
* Assist with the development and implementation of Standard Operating Procedures (SOPs) for all activity carried out by the bioinformatics team, taking account of local policies and procedures.
Support clinical researchers in the implementation of their studies and data analysis.
* Assist and perform regulatory audits and inspections towards UKAS accreditation of the laboratory and deal with any issues/actions necessary to maintain the high quality standards of the clinical genetics diagnostic service.
* Ensure that Health and Safety guidelines are adhered to and that risk assessments are conducted prior to research studies being undertaken.
* Ensure that all incidents, accidents and hazards are reported according to the incident reporting mechanisms of the Trust.
Person specification
Qualifications/ Education
Essential criteria
* Educated to MSc, or equivalent in genome biology, bioinformatics or computer science, with excellent knowledge of NGS bioinformatics techniques and related software
* Proven track record in a relevant discipline, for example computing, life sciences or natural sciences
* Software project leadership skills and experience of commercial and academic molecular biology software packages for mining genome databases.
Desirable criteria
* PhD or equivalent in genome biology, bioinformatics or computer science.
Professional/ Statutory Registration
Essential criteria
* Registered with the HCPC as a Clinical Scientist
Previous experience & knowledge
Essential criteria
* Experience in genetics and bioinformatics.
* Experience in delivering bioinformatics training and STP curriculum.
* Expertise in NGS DNA sequence analysis and alignment, variant annotation and detection and programming, as well as excellent communication skills.
* In-depth knowledge of programming languages to include a scripting, object-orientated database and statistical languages, such as Python, PHP, Perl, JAVA and R.
* Experience with database structures (relational and non-relational) and querying languages, such as SQL, MySQL and Mongodb
* Knowledge of working within a Linux/Unix computing environment and High Performance Computing (HPC).
* Knowledge of statistics and experience with statistical software and data processing modules such as R and python modules including pandas, numpy and Matplotlib.
* Experience in data presentation and statistical analyses.
Desirable criteria
* Experience in a diagnostic laboratory.
* Experience participating in collaborative research projects.
* Some experience of research in a clinical environment.
* Proven publication record in peer-reviewed journals.
Skills & Abilities
Essential criteria
* Commitment and demonstrable leadership skills.
* Ambition - an eagerness to play a leading role in the Groups' current projects and future direction.
* Willingness to work as part of a team and to be communicative, open-minded and cooperative.
* Willingness to undertake any necessary training for the role
* Innovative and proactive approach with a willingness to accept responsibility for management decisions.
* Meticulous approach and attention to detail.
Guy's and St Thomas' celebrates, respects and values the diversity of its staff and patients. We review our policies, procedures and practices to ensure that all employees, patients and carers are treated equitable according to their needs. We are actively committed to ensuring that no one who applies for a job, works or study's at the Trust, or accesses our services is discriminated against on the grounds of race, ethnicity, nationality, disability, religion or belief, age, gender identity, gender reassignment, sexual orientation, pregnancy and maternity/paternity, or marital/civil partnership.
Applications are welcomed from applicants with a disability. We can make reasonable adjustments and offer support and advice in a variety of ways throughout the application process. Equality of opportunity is our policy.
As an organisation we are committed to developing our services in ways that best suit the needs of our patients. This means that some staff groups will increasingly be asked to work a more flexible shift pattern so that we can offer services in the evenings or at weekends.
Flexible working
We are committed to supporting all employees to achieve a healthy work life balance and to work in a way that is best for them and our patients. We will consider all requests to work flexibly, taking in to account the individual's personal circumstances as well the needs of the service. We encourage all prospective applicants to discuss their individual circumstances with the recruiting manager as part of the on-boarding process.
Due to recent changes in the UK immigration rules which affect Skilled Worker Visas, Global Business Mobility, Higher Skill Level and Increased Salary Thresholds, please ensure that you are able to meet the requirements to live and work in the UK before applying. Further information about eligibility is available on the UK Government website.
Your e-mail address is important to us - We communicate to all job applicants via the e-mail address which has been provided on the application form. Please ensure that you check your e-mail on a regular basis.
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Employer certification / accreditation badges
Applicant requirements
You must have appropriate UK professional registration.
Documents to download
* Job Description (PDF, 296.4KB)
* Person Specification (PDF, 256.4KB)
* Functional requirements (PDF, 376.6KB)