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



    Genomics England applies state of the art approaches to whole genome sequences for processing, analysis, quality assurance and annotation. This includes integrating phenotypic and other clinical data with whole genome sequencing to create a world-leading, high fidelity data repository for the NHS and third party users.

    The Bioinformatics team develops and applies state of the art approaches to 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 analyst role is part of a highly motivated Bioinformatics team, working as part of a small team responsible for rare disease analysis.


    Key Accountabilities:
    • Carrying out alignment and variant calling, family based analyses and burden and association testing
    • Benchmarking genome analysis pipelines
    • Performing computational analyses for a range of projects
    • Developing and implementing new features
    • Establishing general bioinformatics resources for day-to-day use by colleagues


    Experience Required:
    • Postdoc with experience of working within Rare Diseases and Bioinformatics/Computational Biology and Systems Biology or equivalent work experience
    • Expertise to apply and develop state-of-the-art statistical genetics methods that maximise the impact of genetic analyses within our pipeline
    • Good knowledge of rare disease genomics desirable
    • Have solid training in statistical genetics, statistical bioinformatics and or machine learning, and ideally some quantitative background such as a degree in physics, computer science, and maths. These skills could have been developed during a PhD for example through a PhD in computational biology, statistical genomics, and statistical genetics.
    • Practical knowledge of NGS algorithms and available resources
    • Solid knowledge of family based analysis and knowledge of association testing
    • Strong programming skills (Python, R); ability to develop codes as a part of team
    • Excellent technical writing skills
    • A demonstrable ability to cope under pressure and deliver to deadlines
    • Ability to communicate effectively within a multidisciplinary team
    • Flexible and co-operative approach to colleagues
    • Ability to work independently and to show initiative within a team
    • Ability to prioritise and balance competing demands


    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 Emilie Francis at efrancis[at] or call (+44) 121 616 3477 to discuss this opportunity further.

    Keywords: Rare, Disease, Analyst, WGS, WES, Genomics, Bioinformatics, Pipelines, Statistics, Testing, Writing, Variants, NGS, London, Fixed-Term

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