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    Opportunity: Clinical Bioinformatician @ Genomics England -- London, UK
    Submitted by Eugene Mc Daid; posted on Wednesday, April 10, 2019



    Paramount are working in partnership with Genomics England to expand their team. To build on the success of the recently completed 100,000 Genomes Project the Government tasked NHS England with support from Genomics England to launch a new NHS Genomic Medicine Service. Through 7 Genomic Laboratory Hubs this offers equitable access to the 55 million people in England to the latest genomic medicine and research which will lead to faster diagnosis and personalised medicine.

    Currently their Clinical Bioinformatics team are looking for a Clinical Bioinformatician to join them on a permanent basis. This role would be ideal for someone with a Bioinformatics background working on clinical data, with some programming experience as well.


    As a Clinical Bioinformatician you'll be contributing to the Genomic Interpretation Group's review and reporting of findings back to the NHS by applying state-of-the-art approaches to WGS for processing, analysis, quality assurance and annotation which includes integrating phenotypic and other clinical data with WGS to create a world-leading, high-fidelity data repository for the NHS and third party users.

    Your main responsibilities as a Clinical Bioinformatician will be:
    • Contributing to their in-house pipeline to analyse WGS data of patients and aid in the interpretation of findings using clinical bioinformatics capabilities
    • Performing quality assurance of the analysis and interpretation made by third parties and by in-house pipeline for Rare Disease and Cancer
    • Review variant calls in a timely manner, 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


    The ideal Clinical Bioinformatician will fulfil the following criteria:
    • Degree level (Bioinformatics, Medical Science, relevant discipline)
    • Proven scripting skills (Python, Perl) and Bash, R or SQL essential
    • Proven knowledge/understanding in genetics/genomics and variant calling essential
    • Knowledge of bioinformatics best practice guidelines (e.g. ACGS)
    • 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


    In return you will receive a competitive salary and the opportunity to make a real difference and contribute to the project at its most exciting phase.


    Genomics England works with key partners to collect, transport, store, quality check and sequence the samples from participants. They are working with the NHS to launch the world's first Genomic Medicine Service. Patients will have access to personalised treatment when there was no option for them before.


    If you'd like to know more about the position and apply, please feel free to contact Anna with an up-to-date CV (alauterjung[at] or +44 (0) 121 616 3469).

    Keywords: Bioinformatician, clinical research, clinical data, patient data, Clinical Bioinformatician, NHS, Cancer, Rare Disease, pipeline, Python, R, bash, SQL, GMC, WGS, Whole Genome Sequencing, quality assurance, ACGS, SOP, Medical Science, Genomics, London, UK

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