Bioinformatician in Molecular Genetics Diagnostics

2 weeks ago

London, Greater London, United Kingdom Guy's and St Thomas' NHS Foundation Trust Full time
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 will be funded by the Trust and will be closely allied to several interdisciplinary collaborative projects between clinicians, basic scientists and bioinformaticians, working with colleagues at the South East Genomic Laboratory Hub and GMSA, as well as our academic partners in Imperial College London and Kings College London, throughout the UK and more widely internationally.


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.

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.

It is expected that the post holder will contribute to patient-orientated research projects, collate data and write manuscripts for publication to disseminate results.

The post-holder may be expected to supervise junior bioinformaticians and STP trainees.

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 CGGL 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:

Ourvalueshelp us to define and develop our culture,what we doandhow we do it. It is important that you understand and reflect these values throughout your employment with the Trust.

The post holder will:

  • Put patients first
  • Take pride in what they do
  • Respect others
  • Strive to be the best
  • Act with integrity
Key Relationships

  • The SE GLH Scientific Director and Consultant Clinical Scientist of the CGGL
  • CGGL Clinical Scientists
  • CGGL Quality Manager
  • Local Laboratory IT teams
  • SE GLH Laboratory Leads and Bioinformatics teams
  • External stakeholders such as NHSE, Genomics England and professional bodies
Main tasks and 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.
Communication

  • Participate fully as a team member, sharing knowledge and information and supporting colleagues, including support staff and students to promote a cohesive team and the achievement of team objectives.
  • Participate in local, national and international workshops and me

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