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    Opportunity: Clinical Bioinformatician @ Genomics England -- London, UK
    Submitted by Eugene Mc Daid; posted on Thursday, June 06, 2019



    To build on the success of the 100,000 Genomes Project, the Government tasked NHS England with support from Genomics England to launch a new NHS Genomic Medicine Service comprising a National Genomic Test Directory where 300,000 tests have been re-profiled and whole genome sequencing will be available for direct healthcare. Through 7 Genomic Laboratory Hubs this offers equitable access to the 55 million people in England to the latest genomic medicine and research. This will lead to faster diagnosis and personalised medicine.

    Genomics England has been asked to prepare a plan for up to 5 million genomic tests over the next 5 years. 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.


    Skills 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


    There are some great benefits on offer with this opportunity including a competitive salary, pension, generous holidays and more.


    Please do not hesitate to contact Emilie Francis at efrancis[at] or call (+44) 121 616 3477 to discuss this opportunity further.

    Keywords: Clinical, Bioinformatician, Genomics, Bioinformatics, WGS, Pipelines, Patient, Data, SOP, Python, SQL, Bash, NHS, Variant Calling, London

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