Job summary Clinical Scientist in Bioinformatics (Band 7) Bristol Genetics Laboratory, South West Genomics Laboratory Hub We are seeking a Clinical Scientist (Bioinformatics) to become an integral part of our Bioinformatics Team supporting our start-of-the-art diagnostic laboratory in delivering comprehensive genetic testing services to patients. What we offer: A chance to be at the forefront of precision medicine, contributing to life-changing diagnoses and therapies An environment that values innovation, collaboration, and the professional growth of its team members The opportunity to work with a diverse array of technologies and methodologies We are supportive of flexible working and open to considering working from home options Main duties of the job This is a varied and dynamic role, involving both the operation of in-service bioinformatics pipelines and contributing to the development of new bioinformatics services. In-service duties will include running NGS pipelines for our Rare Disease and Cancer services, performing quality control checks and supporting with scientific queries. The post holder will also collaborate with other members of the bioinformatics team to develop and validate new bioinformatics pipelines to support the delivery of the NHSE National Genomics Test Directory. Other duties include contributing to staff training in bioinformatics and participating in quality assurance activities. The post is open to HCPC registered Clinical Scientists in Bioinformatics. Applications from final year Scientist Training Programme (STP) trainees in Clinical Bioinformatics are welcomed. The role demands a blend of specialist knowledge, analytical thinking and collaborative skills. Experience of working in a bioinformatics section of a diagnostic genetics laboratory service and knowledge of bioinformatic tools, resources and techniques applied to medical genetics are essential. For candidates who are not yet registered, they will be expected to work towards HCPC registration and would be appointed on a salary band appropriate for their experience. The successful candidate will be expected to work 37 1/2 hours per week full-time over seven days of the week. Part time and job share considered. About us As a new member of the Bristol Genetics Laboratory (BGL) Bioinformatics Team, you will be welcomed into a small, tight-knit group of professionals who have a passion for innovation and are committed to delivering high quality patient care. We are a small team that values close relationships and mutual support, ensuring that every contribution is valued. Our size allows for focused collaboration, where team members work closely together to achieve shared goals. We are agile and responsive to change, quickly adapting to new challenges and embracing the latest advancements in bioinformatics with enthusiasm and expertise. With a scientific and technical staff of over 100, BGL is housed in new state of the art Pathology laboratories in North Bristol NHS Trust. BGL is a fully integrated Genomics Laboratory providing comprehensive Cancer and Rare Inherited Disease genomic testing to the South West with extensive specialist services attracting a large number of national and international referrals. BGL has a significant R&D programme and also benefits from co-location with the University of Bristol Learning and Research Centre in the Trust Science Quarter. BGL is fully committed to the provision of high-quality training at all levels, as an accredited training centre. Date posted 16 January 2025 Pay scheme Agenda for change Band Band 7 Salary £46,148 to £52,809 a year per annum, pro rata Contract Permanent Working pattern Full-time, Part-time, Flexible working, Home or remote working Reference number 339-BAL5462 Job locations Southmead Hospital Southmead Road Bristol BS105NB Job description Job responsibilities Please refer to the Job Description for full details. As a Clinical Scientist (Bioinformatics) key duties include: Data Analysis & Interpretation : Conduct comprehensive analysis of genomic data using bioinformatics tools and methodologies. Interpret results in the context of rare diseases and cancer to support clinical decisions. Pipeline Development & Management : Develop, validate, and maintain bioinformatics pipelines for high-throughput genetic data processing. Ensure the accuracy and efficiency of data analysis. Service Development: Actively participate in the creation and enhancement of new genetic testing services. Stay abreast of advancements in the field of bioinformatics to drive innovation within the team. Training & Support : Assist with the provision of basic and specialised training in bioinformatics to various staff groups. Contribute to the training of trainees undertaking the Scientist Training Programme (STP). Assist in troubleshooting and optimising bioinformatics resources. Stakeholder Engagement : Build and maintain relationships with key stakeholders, including Clinical Scientists, Genetic Technologists, Informatics Scientists, research partners, and technology providers, to facilitate seamless service delivery. Quality Assurance : Take a proactive role in maintaining high quality standards to ensure maintenance of the laboratory UKAS accreditation status. Participate in internal audits, document control, and continuous improvement initiatives to uphold ISO standard 15189. Job description Job responsibilities Please refer to the Job Description for full details. As a Clinical Scientist (Bioinformatics) key duties include: Data Analysis & Interpretation : Conduct comprehensive analysis of genomic data using bioinformatics tools and methodologies. Interpret results in the context of rare diseases and cancer to support clinical decisions. Pipeline Development & Management : Develop, validate, and maintain bioinformatics pipelines for high-throughput genetic data processing. Ensure the accuracy and efficiency of data analysis. Service Development: Actively participate in the creation and enhancement of new genetic testing services. Stay abreast of advancements in the field of bioinformatics to drive innovation within the team. Training & Support : Assist with the provision of basic and specialised training in bioinformatics to various staff groups. Contribute to the training of trainees undertaking the Scientist Training Programme (STP). Assist in troubleshooting and optimising bioinformatics resources. Stakeholder Engagement : Build and maintain relationships with key stakeholders, including Clinical Scientists, Genetic Technologists, Informatics Scientists, research partners, and technology providers, to facilitate seamless service delivery. Quality Assurance : Take a proactive role in maintaining high quality standards to ensure maintenance of the laboratory UKAS accreditation status. Participate in internal audits, document control, and continuous improvement initiatives to uphold ISO standard 15189. Person Specification Training Essential BSc (1st or 2nd class honours) in a Bioinformatics, Computer Science or Health Informatics discipline, or a relevant biological discipline with demonstrated abilities in bioinformatics and computing (first or second class) MSc, PhD degree or equivalent in a relevant subject Desirable HCPC registration in Clinical Bioinformatics or working towards registration Work Experience Essential Experience of working in a bioinformatics section of a diagnostic genetics laboratory service or similar Experience of developing and implementing bioinformatic tools and resources Experience of molecular genetics, diagnostic genomics services or similar Desirable Proven experience of successful project management Experience in IT, applications, developments, processes and organisation Knowledge and Skills Essential Knowledge of Next Generation Sequencing approaches and statistical techniques used in manipulation of large data analysis Knowledge of bioinformatic tools, resources and techniques applied to medical genetics Proven experience of working in UNIX/LINUX and BASH scripting Good programming skills in a modern object orientated scripting language (such as Python) suitable for pipeline development and ad hoc scripting Knowledge of SQL database design, development, and administration Desirable Programming skills in a language suitable for statistical analysis (for example R or Python) Experience using bioinformatics workflow languages (such as Nextflow or WDL Experience in LINUX administration Person Specification Training Essential BSc (1st or 2nd class honours) in a Bioinformatics, Computer Science or Health Informatics discipline, or a relevant biological discipline with demonstrated abilities in bioinformatics and computing (first or second class) MSc, PhD degree or equivalent in a relevant subject Desirable HCPC registration in Clinical Bioinformatics or working towards registration Work Experience Essential Experience of working in a bioinformatics section of a diagnostic genetics laboratory service or similar Experience of developing and implementing bioinformatic tools and resources Experience of molecular genetics, diagnostic genomics services or similar Desirable Proven experience of successful project management Experience in IT, applications, developments, processes and organisation Knowledge and Skills Essential Knowledge of Next Generation Sequencing approaches and statistical techniques used in manipulation of large data analysis Knowledge of bioinformatic tools, resources and techniques applied to medical genetics Proven experience of working in UNIX/LINUX and BASH scripting Good programming skills in a modern object orientated scripting language (such as Python) suitable for pipeline development and ad hoc scripting Knowledge of SQL database design, development, and administration Desirable Programming skills in a language suitable for statistical analysis (for example R or Python) Experience using bioinformatics workflow languages (such as Nextflow or WDL Experience in LINUX administration 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. Certificate of Sponsorship 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). UK Registration Applicants must have current UK professional registration. For further information please see NHS Careers website (opens in a new window). 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. Certificate of Sponsorship 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). UK Registration Applicants must have current UK professional registration. For further information please see NHS Careers website (opens in a new window). Employer details Employer name North Bristol NHS Trust Address Southmead Hospital Southmead Road Bristol BS105NB Employer's website https://www.nbt.nhs.uk (Opens in a new tab)