Bioinformatician in Molecular Genetics Diagnostics

Job summary

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

About us

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.

Details

Date posted

11 September 2025

Pay scheme

Agenda for change

Band

Band 7

Salary

£56,276 to £63,176 a year per annum inc HCA

Contract

Permanent

Working pattern

Full-time

Reference number

196-LIS9860E

Job locations

Royal Brompton Hospital

Sydney Street

London

SW3 6NP

Job description

Job 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.

Job description

Job 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

• 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

• PhD or equivalent in genome biology, bioinformatics or computer science.

Professional/ Statutory Registration

Essential

• Registered with the HCPC as a Clinical Scientist

Previous experience & knowledge

Essential

• 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

• 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

• 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.

Person Specification

Qualifications/ Education

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, 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

• PhD or equivalent in genome biology, bioinformatics or computer science.

Professional/ Statutory Registration

Essential

• Registered with the HCPC as a Clinical Scientist

Previous experience & knowledge

Essential

• 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

• 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

• 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.

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

Guy's and St Thomas' NHS Foundation Trust

Address

Royal Brompton Hospital

Sydney Street

London

SW3 6NP

Employer's website

https://www.guysandstthomas.nhs.uk/careers/careers.aspx (Opens in a new tab)

Employer details

Employer name

Guy's and St Thomas' NHS Foundation Trust

Address

Royal Brompton Hospital

Sydney Street

London

SW3 6NP

Employer's website

https://www.guysandstthomas.nhs.uk/careers/careers.aspx (Opens in a new tab)