Clinical Bioinformatician

Genomics England

Reporting to: Lead Clinical Bioinformatician

Team: Bioinformatics team /Interpretation project

Genomics England applies state of the art approaches to whole genome sequences for processing, analysis, quality assurance and annotation. This includes integrating phenotypic and other clinical data with whole genome sequencing to create a world-leading, high fidelity data repository for the NHS and third party users.

The Bioinformatics team develops and applies state of the art approaches to 100,000 whole genome sequences (WGS) in the areas of:

  • Analysis of WGS in cancer and rare diseases 

  • Sequence alignment and variant calling of up to 100 genomes per day 

  • Quality assurance and sample provenance monitoring

This role contributes to the Genomic Interpretation Group’s review and reporting of findings back to the NHS.

Key accountabilities:

  • Contribute to our in-house pipeline to analyse WGS data of patients and aid in the interpretation of findings using clinical bioinformatics capabilities
  • Perform quality assurance of the analysis and interpretation made by third parties and by our in-house pipeline for both Rare Disease and Cancer.
  • Review variant calls in a timely manner that can be used to inform clinical decisions and for research purposes within the NHS GMCs and academic communities.
  • Perform user acceptance testing of third party decision support tools for interpretation.
  • Handling, troubleshooting and prioritising GMC issues from interpretation/system.
  • Support with writing SOPs and documentation about the system.

Essential skill, knowledge and behaviours required:

  • Degree level qualification, or equivalent, in a medical science or relevant discipline.
  • Demonstrated commitment to quality
  • Demonstrate understanding of quality management systems and implementing process improvements and supporting staff with process development and documentation.
  • Familiarity with clinical research and the NHS.
  • Experience of writing and following Standard Operating Procedures.
  • Proven scripting skills (e.g. in one or more of Python, Bash, R, SQL)  (essential)
  • Proven knowledge/understanding in genetics/genomics and variant calling (essential)
  • Knowledge of bioinformatics best practice guidelines (e.g. ACGS)
  • Experience of delivering training to a varied audience (desirable)
  • Ability to work independently and to show initiative within a team
  • Ability to prioritise and balance competing demands
  • Ability to communicate effectively within a multidisciplinary team and external stakeholders
  • Flexible and co-operative approach to colleagues
  • Good attention to detail
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