BACKGROUND

• 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

RESPONSIBILITIES

• 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.

REQUIREMENTS

• 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

COMPENSATION

HOW TO APPLY