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    Opportunity: Support Bioinformatician -- Research Services @ Genomics England -- London, UK
    Submitted by Eugene McDaid; posted on Sunday, July 14, 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 post holder provides high calibre bioinformatics research support to external researchers and industrial partners by enabling analysis, facilitating access to datasets and ensuring optimal use of the Genomics England Research Data Centre. The post holder will act as a second line of support for users of the Research Environment. They will be intimately familiar with the data and applications.

    The research support team is also tasked with quality assuring the data and applications released into the research environment. The role includes elements of a bioinformatician and data analyst, ensuring that our users have an excellent customer experience.


    Key Accountabilities:
    • Understanding Genomics England datasets and the research environment, and being both a super user and advocate internally and externally
    • Understanding the needs of customers (academic, NHS and industry); working with customers to ensure that their scientific projects are successful
    • Carrying out custom analyses on demand
    • Managing data; supporting data generation, intake, and extraction through airlocks
    • Supporting users with how to use our software and data
    • Keeping track of customer relationships and being the internal authority on specific customer issues, needs, and future plans
    • Providing high calibre troubleshooting of problems for customers, appraise customers and Genomics England options and execute solutions, co-ordinating with internal teams when necessary
    • Contributing to the development of the Research Environment through identifying unmet customer needs, suggesting solutions, and improving supporting material
    • Collaborating internally, particularly with others in the Chief Scientist's team, our Commercial team, Bioinformatics team and platform engineers, to develop and deploy suitable solutions for customers
    • Working from time to time on the NHS Clinical Interpretation pipeline


    Key Requirements:
    • Extensive experience in analysis of large-scale genomic data using bioinformatics tools and pipelines
    • Demonstrable experience in using next generation sequencing data
    • Competence in R, Python or similar language appropriate for large-scale genomics analysis
    • Strong communication skills, both written and verbal and excellent facilitation, influencing and presentation skills
    • Good customer-service orientation, disposition to help, and experience in working with customers, preferably in the scientific/pharma industry
    • Excellent team working skills and comfortable working as part of matrix teams and as part of external teams to ensure delivery
    • Experience with high-performance computing or cloud-scale data processing
    • Adaptable to an ever-evolving working environment
    • Background in human disease genetics, preferably in cancer or rare disease, demonstrated by publication record or industry track record
    • Educated to MSc level (or higher), in Bioinformatics, Biostatistics, Statistical Genetics, or a related scientific discipline
    • Proven ability to communicate with stakeholders from diverse backgrounds (e.g. management, IT, R and D, biology, bioinformatics)
    • Willingness to travel occasionally (<15%) to meet customers or to attend events to gain market insight
    • Experience of working in a knowledge sharing environment
    • Proven understanding of clinical and phenotypic data management and the sensitivities surrounding patient cohort data


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


    Please do not hesitate to contact Harvey Uppal at huppal[at] or call (+44) 121 616 3407 to discuss this opportunity further.

    Keywords: Support, Bioinformatics, Research, NGS, Matrix, HPC, Statistical, External, QA, Analysis, Cohort, Cloud, Human, Genetics, Cancer, Rare, Disease, London

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