Bioinformatician in Molecular Genetics Diagnostics

Harmonia Careers; London; On-site; GBP 56,000 - 64,000; Full time

Job summary

A healthcare organization seeks a Bioinformatician for the Clinical Genetics and Genomics Laboratory at Royal Brompton Hospital. The candidate will develop bioinformatics pipelines for genetic diagnostics, ensure compliance with regulations, and collaborate with clinical staff. Essential qualifications include an MSc in bioinformatics and experience in NGS analysis. This full-time, permanent position offers a salary between £56,276 and £63,176 per annum.

Qualifications

• Proven track record in a relevant discipline.
• Registered with the HCPC as a Clinical Scientist.
• Experience in genetics and bioinformatics training.

Responsibilities

• Develop and implement automated pipelines for DNA variant annotation.
• Monitor and assess systems for GCP compliance.
• Assist with regulatory audits for UKAS accreditation.

Skills

NGS bioinformatics techniques

Software project leadership

Programming (Python, PHP, Perl, Java, R)

Database management (SQL, MySQL, MongoDB)

Statistics with R and Python

Education

MSc or equivalent in genome biology, bioinformatics or computer science

PhD or equivalent (desirable)

Job description

Overview

Bioinformatician role based in the Clinical Genetics and Genomics Laboratory at the Royal Brompton Hospital. The post holder will be part of the bioinformatics team responsible for delivering the genetics diagnostic service and developing bioinformatics pipelines and tools to expand testing using Next-Generation and Long-Read Sequencing, as well as other assays. The role involves automated DNA sequence annotation, variant detection, interpretation and collation of variants, report generation, database development, visualization, data warehousing, and contributing to training and STP curriculum. The post holder will optimise and streamline workflows with integrated pipelines for a growing dataset and ensure alignment with UKAS accreditation.

Responsibilities

• Develop and implement automated pipelines for DNA variant annotation and data reporting for analysis of genetic variants underlying 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 all activities carried out by the bioinformatics team; support clinical researchers in study execution and data analysis.
• Assist with regulatory audits and inspections toward UKAS accreditation and address issues to maintain high quality standards of the clinical genetics diagnostic service.
• Ensure Health and Safety guidelines are followed and risk assessments are conducted prior to research studies.
• Report incidents, accidents and hazards according to Trust reporting mechanisms.
• Collaborate with referring clinicians, clinical scientists, genetic technologists and research assistants.
• Update and curate software and annotation resources used by the Clinical Genetics and Genomics Laboratory.
• Contribute to the development of skills in data analysis in diagnostics and research and participate in the delivery of bioinformatic training and education to students.
• Validate and perform quality control of analytical methods for variant detection and annotation in a diagnostic setting.
• Develop software tools to mine and visualize genomics data and participate in group diagnostic and research meetings and internal seminars.

Essential Qualifications & Experience

• 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 experience and familiarity with commercial and academic molecular biology software for mining genome databases.
• Registered with the HCPC as a Clinical Scientist (essential).
• Experience in genetics and bioinformatics, delivering bioinformatics training and STP curriculum.
• Expertise in NGS DNA sequence analysis, alignment, variant annotation and detection; programming skills (Python, PHP, Perl, Java, R); databases (SQL, MySQL, MongoDB); Linux/Unix and HPC; statistics with R and Python (pandas, numpy, Matplotlib); data presentation and statistical analyses.

Desirable

• PhD or equivalent in genome biology, bioinformatics or computer science.
• Experience in a diagnostic laboratory and collaborative research projects; publication record in peer-reviewed journals.

Skills & Abilities

• Commitment, leadership, and the ability to work as part of a team; good communication and collaborative approach.
• Willingness to undertake necessary training; innovative, proactive, and detail-oriented with sound management judgment.

Other Requirements

This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975. A Disclosure to the Disclosure and Barring Service (DBS) will be submitted as part of the recruitment process.

Certificate of Sponsorship and UK registrations: Applications from job seekers who require skilled worker sponsorship will be considered. Applicants must have current UK professional registration and may need to provide a criminal records check for overseas applicants where applicable.

Details

Date posted: 11 September 2025

Pay scheme: Agenda for Change

Band: Band 7

Salary: £56,276 to £63,176 per annum (including HCA)

Contract: Permanent

Working pattern: Full-time

Location: Royal Brompton Hospital, Sydney Street, London, SW3 6NP