Translational Bioinformatician
Job summary
Come and join our team and help us improve Genetic Services for Rare Disease
Band 7 Translational Bioinformatician required
Do you want to help shape the future of the NHS Rare Disease Genomics Service?
We are looking for a skilled and enthusiastic postdoctoral Bioinformatician to join our team within the North Thames Genomic Medicine Service at Great Ormond Street Hospital.
Our team is transforming patient care by developing pipelines for rapid, comprehensive diagnosis of monogenic conditions using whole genome sequencing. We are also expanding the use of long-read sequencing technologies and integrating AI to improve efficiency and diagnostic yield. We are exploring expanding our non-invasive prenatal diagnosis service based on analysis of cell free DNA to include screening for selected monogenic conditions.
Main duties of the job
In this exciting role, you will develop analytical pipelines, optimise and maintain existing workflows, and contribute to database development projects. You will play a key role in evaluating new bioinformatics applications, supporting infrastructure planning, and collaborating closely with scientific teams across the service.
If you are committed to 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. This Band 7 position is available immediately, funded until 31st March 2028. You will join an enthusiastic, friendly, and motivated multidisciplinary group, working across both the Clinical Bioinformatics and Translational Research teams.
This role is ideal for postdoctoral clinical Bioinformaticians seeking to broaden their research experience and contribute to translating new innovations into routine patient care. We are particularly looking for someone with expertise in AI that could be applied to genomic variant filtering but expertise in other areas such as analysis of cfDNA would also be welcomed.
About us
We are keen to make our workforce as diverse asthe communities we serve, and we hope to attract applications from underrepresented groups, includingpeople withBlack, Asian and Minority Ethnicheritage, people with a disability, and peoplefrom 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 andyoung people at our hospital with even better care.
Our hospital is committed to creating an environmentthat is open and inclusive. Our staff are encouragedto engage with colleagues through the following networks: REACH (Race, Ethnicity and Cultural Heritage) ENABLED (Enhancing Abilities & Leveraging Disabilities Network), PRIDEandWomen'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.
Staff networks are 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.
Job description
Job 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
- 1) Knowledge and understanding of diverse backgrounds and perspectives. 2) Understanding of Diversity and Inclusion challenges in the workplace. 3) Demonstrable contribution to advancing Equality, Diversity and Inclusion in the Workplace
Academic/Professional qualification/Training
- MSc in Bioinformatics/Computational Biology or equivalent Postgraduate qualification
- State Registered Clinical Bioinformatician (HCPC)
- Higher degree (PhD) in Bioinformatics or a related field
Experience/Knowledge
- 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
- 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 deploying production ready applications to support genetic services
- Experience of project management
- Demonstrable experience in a clinical diagnostic department
- Detailed knowledge of core computer service concepts
- Experience using docker for development
- Experience in scientific workflow languages for genomic pipelines (e.g. Nextflow)
- Advanced knowledge of the Python programming language, and commonly used Python libraries and web frameworks (e.g. Django and Flask)
- Experience testing python code e.g. using pytest
Skills/Abilities
- 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
- Ability to work on site in line with lab policy on remote working, which is currently a minimum of 20%.
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.
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.
UK Registration
Applicants must have current UK professional registration. For further information please see NHS Careers website.
Employer details
Employer name
Great Ormond Street Hospital for Children NHS Foundation Trust
Address
Great Ormond Street Hospital for Children NHS Foundation Trust
Great Ormond Street Hospital
London
WC1N 3JH
United Kingdom
Employer's website
https://www.gosh.nhs.uk/