Job overview
Come and join our team and help us improve Genetic Services for rare disease
Do you want to help shape the future of the NHS Rare Disease Genomics Service?
We are looking for a skilled and enthusiastic Bioinformatician to join our team within the North Thames Genomic Laboratory Hub at Great Ormond Street Hospital. Our team is transforming patient care by developing pipelines for rapid, comprehensive diagnosis of paediatric conditions, such as early‑onset epilepsy, using genome sequencing. We are also expanding the use of long‑read sequencing technologies to advance clinical services and integrating AI to improve efficiency and diagnostic yield.
In this exciting role, you will play a key part in driving the development of clinically validated improvements to structural variant detection pipelines within the laboratory and integrating these into existing workflows.
If you are committed to supporting accredited diagnostic services while contributing to a well‑established translational research group with an international reputation for driving innovation into clinical practice, this post will be an excellent fit for you. You will join an enthusiastic, friendly, and motivated multidisciplinary group, working across both the Bioinformatics and Translational Research Teams.
Main duties of the job
* Drive the development of clinically validated improvements to structural variant detection pipelines within the laboratory and integrating these into existing workflows.
* To provide expert knowledge in structural variant types and methods of detection.
* Work closely with the clinical bioinformatics team, translational scientists, and other GLHs to support the translation of research into clinical service.
* To pro-actively propose and develop improvements to the clinical service.
* To provide expert knowledge and training in the processing and analysis of genetic and genomic data to research scientists and technical staff as appropriate.
* Ensure clear and safe communication of complex, sensitive or contentious information with specialist partner laboratories, organisations and external service providers.
Working for our organisation
GOSH is committed to recruiting the best person for the job, based solely on their ability and individual merit as measured against the criteria for the role; through a process that is fair, open, consistent and free from bias and discrimination.
We are committed to being a diverse and inclusive employer and foster a culture where all staff are valued, respected and acknowledged. All applicants will receive consideration for employment without regard to race, colour, national origin, religion, sexual orientation, gender, gender identity, age, disability status or length of time spent unemployed.
We particularly welcome applications from BAME communities, people with disabilities and/or long-term health conditions and LGBT+ community members.
We have policies and procedures in place to ensure that all applicants and employees are treated fairly and consistently. We are proud to be accredited as a Disability Confident Employer, a member of Business Disability Forum and a Stonewall Diversity Champion.
We have active and Executive supported BAME, LGBT+ and Allies, Disability and Long-Term Health Conditions and Women’s staff networks. Staff networks are employee-led groups formed around interests, issues and a common bond or background. Staff network members create a positive and inclusive work environment at Great Ormond Street Hospital by actively contributing to the Trust’s mission, values and efforts specific to inclusion. All of our staff networks are open to any employee.
Detailed job description and main responsibilities
The full job description provides an overview of the key tasks and responsibilities of the role, and the person specification outlines the qualifications, skills, experience, and knowledge required. For both documents please view the attachment.
Person specification
GOSH Culture and Values
Essential criteria
* Our Always values
* Able to work on site when required
Academic/Professional qualification/Training
Essential criteria
* MSc in Bioinformatics/Computational Biology or equivalent Postgraduate qualification
* 1st or 2nd class honours degree in genetics or a relevant biological subject
Desirable criteria
* State Registered Clinical Bioinformatician (HCPC)
Experience/Knowledge
Essential criteria
* Advanced knowledge of the Python programming language, and commonly used Python libraries and web frameworks ( Django and Flask)
* Knowledge of confidentiality and data protection processes and procedures
* Experience of developing, implementing and maintaining bioinformatic data analysis pipelines
* Advanced use of git version control
* Experience in deploying production ready applications to support genetic diagnostic services
* Knowledge of bash and shell scripting
* Ability to work in a Unix/Linux environment
* Up to date knowledge of the relevant scientific literature
* Evidence of professional and personal development.
* In depth understanding of structural variant types and methods of detection
Desirable criteria
* Experience in scientific workflow languages for genomic pipelines ( Nextflow)
* Experience with creating, querying and maintaining databases, particularly MySQL or PostgreSQL
* Experience using docker for development
* Demonstrable experience in a clinical diagnostic department
* Experience of dealing with large data sets
* Experience of project management
* Knowledge and experience with cloud platforms AWS or Azure
* Understanding of the principles, methodologies and unique considerations involved in prenatal diagnostic sequencing
Skills/Abilities
Essential criteria
* Evidence of excellent inter-personal communication skills
* Excellent organisational and time management skills with ability to prioritise tasks effectively
* Ability to develop and maintain excellent communication and working relationships
* Advanced problem-solving skills
* Able to provide specialist advice to laboratory staff
* Able to present data at departmental and inter-departmental meetings
* Awareness of clinical significance of genetics findings and implications for patients
* Work to deadlines, operating autonomously and as part of a team
* Knowledge and understanding of ISO15189 accreditation standards and their application to a genomics laboratory
* Ability to write and follow bioinformatics protocols