Clinical Bioinformatician

University College London Hospitals NHS Foundation Trust

Information:

This job is now closed

Job summary

Clinical Bioinformatician

The Neurogenetics Laboratory of the UCLH National Hospital for Neurology and Neurosurgery (NHNN) provides a regional, national and international diagnostic service for inherited neurological disease, including the Highly Specialised Services for Mitochondrial Disease and Rare Neuromuscular Disorders (skeletal muscle channelopathies). The Neurogenetics Laboratory is located alongside the Regional Genetics Laboratory at Great Ormond Street Hospital, forming the lead Rare Disease Laboratory in the North Thames Genomics Laboratory Hub (GLH).

The laboratory is ISO 15189:2012 accredited and has close associations with clinicians and research groups at the UCL Queen Square Institute of Neurology.

Main duties of the job

A full time HCPC-Registered Clinical Bioinformatician is required to participate in the provision of the molecular genetic service, this is a 1-year fixed-term post covering for maternity leave. Applications will also be considered from candidates working towards registration. The post holder will work closely with the bioinformatics team at GOSH and within the North Thames GLH to maintain and develop in house pipelines for both nuclear and mitochondrial DNA NGS analysis as well as bespoke programs designed to facilitate analysis of whole genome sequence data. The role includes management of data storage and archiving. With the introduction of whole genome sequencing into the NHS diagnostic setting this is an evolving and challenging role suited to a flexible hardworking bioinformatician.

Previous experience in a diagnostic genetics laboratory or in NGS data analysis pipeline development and maintenance is essential; no previous experience in neurology is necessary.

About us

At UCLH (University College London Hospitals NHS Foundation Trust) our success starts with you.

This is an exciting opportunity to join one of the largest and most successful Foundation Trusts in the UK with an international reputation and a tradition of innovation.

Based in the busy West End of London, we have a lively and vibrant working atmosphere, with quick and easy transport links to all our sites. Our size and resources enable us to offer a range of attractive benefits as well as unparalleled education and development opportunities for staff at all levels. This includes an extensive portfolio of academic and clinical courses and programmes ranging from ongoing personal development through to clinical excellence and leadership skills. UCLH prides itself on its investment in staff both in terms of developing career skills but also its commitment to staff health and wellbeing.

Please note in order to progress your application, your data will be processed by our 3rd party recruitment providers - North London Partners Shared Service, who conduct recruitment activities on behalf of UCLH.

Date posted

11 May 2022

Pay scheme

Agenda for change

Band

Band 7

Salary

£47,154 to £52,936 a year per annum inclusive pro rata

Contract

Fixed term

Duration

12 months

Working pattern

Full-time

Reference number

309-SHB5561-MU-A

Job locations

Queen Square

London

WC1N 3BG


Job description

Job responsibilities

Service Delivery, Development and Improvement:

  • Oversee the running of the in-house laboratory NGS analysis pipeline to generate diagnostic genetic data for the laboratory, and regularly test systems to verify they continue to be robust and fit for purpose
  • Lead on advances in NGS data analysis for the laboratory, implementing improvements in line with changes in legislation and national and international best-practice.
  • Develop and implement automated and semi-automated analytical workflows designed to increase efficiencies
  • Pro-actively propose and develop service improvements and research methodologies
  • Ensure that the laboratory continues to comply with internationally-accredited (ISO) standards in its data analysis and data storage.
  • Write standard operating procedures
  • Work with colleagues in the laboratory and in other UK diagnostic laboratories to develop best practice for the analysis of NGS data
  • Deliver specialist training to colleagues from multi-disciplinary backgrounds on the workings of the data analysis pipeline, provide continual training as updates are implemented
  • Evaluate licensed and open-source analytical software
  • Manage the storage and secure archiving of NGS raw and processed data.
  • Keep up-to-date with advances, legislation and best practice on data storage in pathology laboratories and initiate changes to ensure the laboratory works to internationally-accredited (ISO) standards in this area.
  • Develop an in-house NGS database to enable efficient auditing, research and summarising of data, and to facilitate submission of data to external shared databases
  • Plan and implement upgrades to computing and data storage capacity.
  • Be responsible for regularly verifying that the NGS data storage systems continue to be robust and fit for purpose
  • Train other staff members on all aspects of NGS data storage management, provide continual training as updates are implemented
  • Liaise with Trust IT department over day-to-day IT issues
  • Be responsible for uploading the latest versions of existing commercial (non-NGS) genetic analysis software onto departmental computers.
  • Be responsible for appropriate use of expensive IT equipment, and ensure that others users are suitably trained to do the same.
  • To fully line manage and take responsibility for the education of trainee bioinformaticians coming through the lab on placement

Translational Research and Development

  • Contribute to the research output of the department. Work alongside NHS and academic colleagues to produce data suitable for submission to peer-reviewed journals. To develop improved methods for the characterisation of novel variants regarding their impact on function and pathogenicity
  • To improve methods for the reliable identification of insertions and deletions in NGS data
  • To develop methods for the reliable identification of CNVs in NGS data
  • To provide expert support in the presentation of service reports and research findings at local, regional, national and international meetings
  • To publish service and research findings in high quality, peer-reviewed journals
  • To present service and research findings at regional, national and international meetings

Communication and Relationships

  • Establish and maintain excellent working relationships with professional colleagues at the NHNN, the UCL Institute of Neurology, UCL Partners and national and international collaborators
  • Communicate on bioinformatic matters to colleagues from multi-disciplinary backgrounds.
  • Establish and maintain excellent working relationships with all members of the Neurogenetics Laboratory
  • Establish and maintain excellent working relationships with professional colleagues at other regional and specialist genetics centres and communicate on highly specialised bioinformatic matters with other bioinformaticians.
  • Foster and maintain a good team spirit within the laboratory
  • Represent the laboratory at local, regional, national and international levels as required

Planning and Organisation

  • Work closely and effectively with departmental colleagues to provide high quality training for post-registration, pre-registration and trainee clinical scientists and laboratory technologists required for the delivery of a reliable, competitive, efficient, cost effective and high quality clinical genetic diagnostic service
  • Work under pressure and maintain a high level of attention to detail and resourcefulness at all times
  • Ensure implementation of procedures according to written laboratory protocols where applicable and to be responsible for updating procedures according to the departmental policy.
  • Project manage all bio-informatics developments within the service, and contribute to the genomics strategy for the Trust, taking the lead for all information aspects of the service
  • Communicate difficult and/or unresolved problems to senior members of staff.

Knowledge, Training and Experience

  • Maintain an up to date and comprehensive knowledge and understanding of relevant literature, service development and delivery
  • Provide expert knowledge and training in the processing and analysis of genetic and genomic data
  • Engage with the National School of Healthcare Science, Modernising Scientific Careers/STP Bioinformatician training programme. To provide expert input and guidance to the local development and delivery of the training programme, working closely with colleagues across UCL Partners.
  • Provide bioinformatics training to clinical scientists, research scientists and technical staff as appropriate
  • Develop and record an active programme of continuous professional development (CPD)

Job description

Job responsibilities

Service Delivery, Development and Improvement:

  • Oversee the running of the in-house laboratory NGS analysis pipeline to generate diagnostic genetic data for the laboratory, and regularly test systems to verify they continue to be robust and fit for purpose
  • Lead on advances in NGS data analysis for the laboratory, implementing improvements in line with changes in legislation and national and international best-practice.
  • Develop and implement automated and semi-automated analytical workflows designed to increase efficiencies
  • Pro-actively propose and develop service improvements and research methodologies
  • Ensure that the laboratory continues to comply with internationally-accredited (ISO) standards in its data analysis and data storage.
  • Write standard operating procedures
  • Work with colleagues in the laboratory and in other UK diagnostic laboratories to develop best practice for the analysis of NGS data
  • Deliver specialist training to colleagues from multi-disciplinary backgrounds on the workings of the data analysis pipeline, provide continual training as updates are implemented
  • Evaluate licensed and open-source analytical software
  • Manage the storage and secure archiving of NGS raw and processed data.
  • Keep up-to-date with advances, legislation and best practice on data storage in pathology laboratories and initiate changes to ensure the laboratory works to internationally-accredited (ISO) standards in this area.
  • Develop an in-house NGS database to enable efficient auditing, research and summarising of data, and to facilitate submission of data to external shared databases
  • Plan and implement upgrades to computing and data storage capacity.
  • Be responsible for regularly verifying that the NGS data storage systems continue to be robust and fit for purpose
  • Train other staff members on all aspects of NGS data storage management, provide continual training as updates are implemented
  • Liaise with Trust IT department over day-to-day IT issues
  • Be responsible for uploading the latest versions of existing commercial (non-NGS) genetic analysis software onto departmental computers.
  • Be responsible for appropriate use of expensive IT equipment, and ensure that others users are suitably trained to do the same.
  • To fully line manage and take responsibility for the education of trainee bioinformaticians coming through the lab on placement

Translational Research and Development

  • Contribute to the research output of the department. Work alongside NHS and academic colleagues to produce data suitable for submission to peer-reviewed journals. To develop improved methods for the characterisation of novel variants regarding their impact on function and pathogenicity
  • To improve methods for the reliable identification of insertions and deletions in NGS data
  • To develop methods for the reliable identification of CNVs in NGS data
  • To provide expert support in the presentation of service reports and research findings at local, regional, national and international meetings
  • To publish service and research findings in high quality, peer-reviewed journals
  • To present service and research findings at regional, national and international meetings

Communication and Relationships

  • Establish and maintain excellent working relationships with professional colleagues at the NHNN, the UCL Institute of Neurology, UCL Partners and national and international collaborators
  • Communicate on bioinformatic matters to colleagues from multi-disciplinary backgrounds.
  • Establish and maintain excellent working relationships with all members of the Neurogenetics Laboratory
  • Establish and maintain excellent working relationships with professional colleagues at other regional and specialist genetics centres and communicate on highly specialised bioinformatic matters with other bioinformaticians.
  • Foster and maintain a good team spirit within the laboratory
  • Represent the laboratory at local, regional, national and international levels as required

Planning and Organisation

  • Work closely and effectively with departmental colleagues to provide high quality training for post-registration, pre-registration and trainee clinical scientists and laboratory technologists required for the delivery of a reliable, competitive, efficient, cost effective and high quality clinical genetic diagnostic service
  • Work under pressure and maintain a high level of attention to detail and resourcefulness at all times
  • Ensure implementation of procedures according to written laboratory protocols where applicable and to be responsible for updating procedures according to the departmental policy.
  • Project manage all bio-informatics developments within the service, and contribute to the genomics strategy for the Trust, taking the lead for all information aspects of the service
  • Communicate difficult and/or unresolved problems to senior members of staff.

Knowledge, Training and Experience

  • Maintain an up to date and comprehensive knowledge and understanding of relevant literature, service development and delivery
  • Provide expert knowledge and training in the processing and analysis of genetic and genomic data
  • Engage with the National School of Healthcare Science, Modernising Scientific Careers/STP Bioinformatician training programme. To provide expert input and guidance to the local development and delivery of the training programme, working closely with colleagues across UCL Partners.
  • Provide bioinformatics training to clinical scientists, research scientists and technical staff as appropriate
  • Develop and record an active programme of continuous professional development (CPD)

Person Specification

Knowledge and Qualifications

Essential

  • BSc or equivalent in biological sciences, or another subject
  • HCPC-Registered Clinical Bioinformatician or working towards registration

Desirable

  • PhD in Computational Biology or bioinformatics, or equivalent experience

Experience

Essential

  • Demonstrable experience of programming skills including a thorough knowledge of Python
  • Proficient at coding in at least one or more of the following languages: Perl, R, C, Java
  • Experience of working in human genetics
  • Experience of integration and analysis of NGS data
  • Experience of UNIX/LINUX operating systems to an advanced level
  • Experience of the use and evaluation of open source software
  • Experience of data mining and extraction from online databases (e.g. dbSNP, 1000 Genomes, UK 10K)
  • Proficient in the use of genome browsers (e.g. UCSC, Ensembl)

Desirable

  • Experience of software design and development
  • Experience of gene network/interaction software

Skills and Abilities

Essential

  • Proven track record of working under pressure to strict deadlines
  • The ability to work co-operatively with both clinical and non-clinical staff
  • Quality focussed with an innovative approach and the ability to solve complex problems
  • Excellent computer and keyboard skills
  • Positive, "can do" attitude to work
Person Specification

Knowledge and Qualifications

Essential

  • BSc or equivalent in biological sciences, or another subject
  • HCPC-Registered Clinical Bioinformatician or working towards registration

Desirable

  • PhD in Computational Biology or bioinformatics, or equivalent experience

Experience

Essential

  • Demonstrable experience of programming skills including a thorough knowledge of Python
  • Proficient at coding in at least one or more of the following languages: Perl, R, C, Java
  • Experience of working in human genetics
  • Experience of integration and analysis of NGS data
  • Experience of UNIX/LINUX operating systems to an advanced level
  • Experience of the use and evaluation of open source software
  • Experience of data mining and extraction from online databases (e.g. dbSNP, 1000 Genomes, UK 10K)
  • Proficient in the use of genome browsers (e.g. UCSC, Ensembl)

Desirable

  • Experience of software design and development
  • Experience of gene network/interaction software

Skills and Abilities

Essential

  • Proven track record of working under pressure to strict deadlines
  • The ability to work co-operatively with both clinical and non-clinical staff
  • Quality focussed with an innovative approach and the ability to solve complex problems
  • Excellent computer and keyboard skills
  • Positive, "can do" attitude to work

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

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

University College London Hospitals NHS Foundation Trust

Address

Queen Square

London

WC1N 3BG


Employer's website

https://www.uclh.nhs.uk (Opens in a new tab)

Employer details

Employer name

University College London Hospitals NHS Foundation Trust

Address

Queen Square

London

WC1N 3BG


Employer's website

https://www.uclh.nhs.uk (Opens in a new tab)

For questions about the job, contact:

Clinical Scientist

Dr James Polke

james.polke@nhs.net

Date posted

11 May 2022

Pay scheme

Agenda for change

Band

Band 7

Salary

£47,154 to £52,936 a year per annum inclusive pro rata

Contract

Fixed term

Duration

12 months

Working pattern

Full-time

Reference number

309-SHB5561-MU-A

Job locations

Queen Square

London

WC1N 3BG


Supporting documents

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