Clinical Bioinformatician

We are seeking a skilled and enthusiastic Clinical Bioinformatician to join our team based in the North Thames Genomic Laboratory Hub at Great Ormond Street Hospital. Our team is delivering transformation in patient care by developing pipelines for rapid, comprehensive diagnosis of rare diseases.

If you are committed to contributing to a team delivering excellence in rare disease bioinformatics this is definitely the post for you.

You will be joining an enthusiastic, friendly, motivated Clinical Bioinformatics Team. This is an ideal opportunity to seriously contribute to clinical practice for the benefit of patients. This post is suitable for registered Clinical Bioinformaticians or Trainee Bioinformaticians close to registration.

The role includes a minimum requirement of 20% onsite working, although the expectation is that you will work onsite for 40% of the week to support service delivery, collaboration and team integration.

Main duties of the job

You will be working within a team of Bioinformaticians supporting diagnostics services at Great Ormond Street Hospital. The role will be a mix of acting as Duty Bioinformatician, development work and data analysis to support the rare disease diagnostic service. The Duty Bioinformatician ensures the smooth operational delivery of the service and answers daily issues raised by the scientific teams. Development work includes working on new and updating existing pipelines and database projects, as well as evaluations of applications and infrastructure planning. Supporting scientific and clinical teams is also an important part of the role, requiring strong data analysis and presentation skills.

It is likely that the majority of the role will be supporting the development of the service, but individuals will need to cover all aspects of the role. Having a broad set of programming skills and IT knowledge will be required. You will be responsible for ensuring that all work is completed to a high standard within defined timelines. You will be expected to work efficiently as part of the Bioinformatics Team and as a supportive team member. Compliance with UKAS ISO15189 standards is required, along with ensuring that the bioinformatics quality standards are maintained.

Working for our organisation

We are keen to make our workforce as diverse as the communities we serve, and we hope to attract applications from underrepresented groups, including people with Black, Asian and Minority Ethnic heritage, people with a disability, and people from LGBTQ+ communities. By growing an ever more diverse workforce, we’ll have a greater range of perspectives and knowledge, meaning that we can provide the children and young people at our hospital with even better care.

Our hospital is committed to creating an environment that is open and inclusive. Our staff are encouraged to engage with colleagues through the following networks: REACH (Race, Ethnicity and Cultural Heritage) ENABLED (Enhancing Abilities & Leveraging Disabilities Network), PRIDE and Women’s networks; all of which are sponsored by a member of our Executive Management Team.

We want to ensure that all of our people, regardless of their background, are seen and heard. We want to attract applicants that share our commitment to inclusion and that understand diversity is a strength that is embraced and valued.

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

• Our Always values
• Able to work on site when required
• State Registered Clinical Bioinformatician (HCPC)
• MSc in Bioinformatics/Computational Biology or equivalent Postgraduate qualification
• Higher degree (PhD) in Bioinformatics or a related field

Experience/Knowledge

• 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
• Experience with creating, querying and maintaining databases, particularly MySQL or PostgreSQL
• Advanced use of git version control
• Demonstrable experience in a clinical diagnostic department
• 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.
• Experience in scientific workflow languages for genomic pipelines ( Nextflow)
• Experience deploying software in the cloud

Skills/Abilities

• Excellent organisational and time management skills with ability to prioritise tasks effectively
• Ability to develop and maintain excellent communication and working relationships
• 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

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