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    Opportunity: Support Bioinformatician @ Genomics England -- London, UK
    Submitted by Eugene Mc Daid; posted on Tuesday, October 17, 2017



    Paramount are working in partnership with Genomics England to expand their team in order to deliver success Paramount are working in partnership with Genomics England to expand their team in order to with the 100,000 Genomes Project. This is a challenging and fast moving project with the aim to carry out whole genome sequencing on 100,000 participants. Genomics England works with key partners to collect, transport, store, quality check and sequence the samples from participants. The aim for this project is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn't one before. In time, there is the potential of new and more effective treatments.

    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 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.


    • Understanding our 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 and that they gain value from their interactions with our Research Environment. This includes face to face engagement to assess needs and execution
    • Supporting users with how to use our software and data
    • Carrying out custom analyses on demand
    • Managing data, QA releases, supporting data intake and extraction through airlocks and adding external data to our environment, helping with data extraction and generation of data extracts
    • Providing high calibre troubleshooting of problems for customers, appraise customers and Genomics England options and execute solutions, co-ordinating with internal teams when necessary
    • Keeping track of customer relationships and being the internal authority on specific customer issues, needs, and future plans
    • Sharing knowledge within Genomics England about customer needs and experiences and contributing to the development of the Research Environment
    • Collaborating internally, particularly with others in the Chief Scientist's team, our Commercial team, Bioinformatics team and software and infrastructure engineers, to develop and deploy suitable solutions for customers
    • Working from time to time on the NHS Clinical Interpretation pipeline (creating a seamless bioinformatics team who understand the NHS and research pipelines)


    • Evidence of experience of bioinformatics research and analytics using large genomic datasets of next generation sequencing data alongside clinical data in a field relevant to Genomics England
    • Good customer-service orientation, disposition to help, and proven expertise in partnership working with customers, preferably in the scientific/pharma industry
    • Strong communication skills, both written and verbal and excellent facilitation, influencing and presentation skills
    • Proven ability to communicate with key customer and internal stakeholders from diverse backgrounds (e.g. management, IT, R and D, biology, bioinformatics)
    • Excellent team working skills and comfortable working as part of matrix teams and as part of external teams to ensure delivery
    • Experience of working in a knowledge sharing environment
    • Willingness to travel occasionally (< 15%) to meet customers or to attend events to gain market insight
    • Experience with cloud-scale data processing and high-performance computing
    • Educated to MSc level (or higher), in a relevant scientific discipline
    • Demonstrated knowledge and competence in relevant programming languages and applications (e.g. R, Python, Perl, SQL) and experience of using a suite of bioinformatics tools to problem solve and answer research questions
    • Adaptable to an ever-evolving working environment
    • Experience of technical writing
    • Experience of database development and design, ideally including both SQL and NoSQL (eg Hadoop)
    • Experience in "data wrangling" large and or complex data sets using tools such as those from R/tidyverse
    • 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, Bioinformatician, London, Genomics England, Customer, QA/ QC, Clinical, Perl, Python, NGS, SQL, Clinical, Pipeline, HPC, Cloud.

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