Bioinformatician in Molecular Genetics Diagnostics

Overview
Applications are invited for a Bioinformatician based in the Clinical Genetics and Genomics Laboratory at the Royal Brompton Hospital. The post holder will be part of the bioinformatics team delivering the genetics diagnostic service and developing bioinformatics pipelines and tools to expand the spectrum of genetics tests using Next-Generation and Long-Read Sequencing, as well as other assays. Experience in human molecular genetics and bioinformatics is desirable, including automated DNA sequence annotation, variant detection, interpretation, and report generation, plus data warehousing, visualization tools, and database development. The role includes delivering bioinformatics training and STP curriculum, optimising and streamlining workflows, and ensuring alignment with UKAS accreditation.The post holder is expected to contribute to group diagnostic and research activities and to participate in training and education for students and staff.
ResponsibilitiesDevelop and implement automated pipelines for DNA variant annotation and data reporting for inherited disorders.
Develop, monitor and assess systems to ensure diagnostics and research are conducted in accordance with Good Clinical Practice (GCP) and Clinical and Research Governance.
Develop and implement Standard Operating Procedures (SOPs) for bioinformatics activities, and support clinical researchers in data analysis.
Assist with regulatory audits and inspections towards UKAS accreditation; maintain high quality standards of the clinical genetics diagnostic service.
Ensure Health and Safety guidelines are adhered to and risk assessments are conducted prior to research studies.
Report incidents, accidents and hazards according to Trust mechanisms.
About us
The Royal Brompton and Harefield Hospitals are part of Guy''s and St. Thomas'' NHS Foundation Trust. The Clinical Genetics and Genomics Laboratory (CGGL) is part of the NHSE South East Genomic Laboratory hub and collaborates with the NHLI, Imperial College London. The CGGL has developed bioinformatic tools and pipelines for analysis and reporting of sequence data and is involved in research to develop new technologies.
Organisational Values
Our values define our culture and approach. It is important that you understand and reflect these values throughout your employment with the Trust.
Details
Date posted: 11 September 2025Pay scheme: Agenda for changeBand: Band 7Salary: £56,276 to £63,176 a year inc HCAContract: PermanentWorking pattern: Full-timeReference: 196-LIS9860ELocation: Royal Brompton Hospital, Sydney Street, London, SW3 6NP
Qualifications and Experience
Essential
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 (computing, life sciences or natural sciences)
Software project leadership skills and experience with molecular biology software for mining genome databases
HCPC registration as a Clinical Scientist
Experience in genetics and bioinformatics; delivering bioinformatics training and STP curriculum
Expertise in NGS DNA sequence analysis (alignment, variant annotation and detection), programming (Python, PHP, Perl, Java, R), and experience with databases (relational/non-relational) and querying languages (SQL, MySQL, MongoDB)
Linux/Unix computing environment and High Performance Computing (HPC); statistics with R and Python modules (pandas, numpy, Matplotlib)
Desirable
PhD or equivalent in genome biology, bioinformatics or computer science
Experience in a diagnostic laboratory; collaborative research projects; clinical environment; publications
Skills and AbilitiesCommitment, leadership abilities and willingness to work in a team
Ambition to play a leading role in current and future projects
Open-minded, cooperative, and able to undertake necessary training
Innovative, proactive with responsibility for management decisions; meticulous attention to detail
Regulatory and Sponsorship Statements
This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975; a Disclosure check will be submitted to the Disclosure and Barring Service (DBS).Applications from job seekers requiring Skilled Worker sponsorship are welcome and will be considered. See UK Visas and Immigration guidance for more information. UK registration with the appropriate professional body is required.
Employer
Guy''s and St Thomas'' NHS Foundation TrustRoyal Brompton Hospital, Sydney Street, London, SW3 6NP
Notes
All applications are subject to the Trust''s policies and UK employment law; this job description may be amended to reflect the needs of the service.
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