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    Opportunity: Senior Rare Disease Analyst @ Genomics England -- London, UK
    Submitted by Eugene Mc Daid; posted on Thursday, October 03, 2019

    Submitter

    BACKGROUND

    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 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.

    RESPONSIBILITIES

    Key Accountabilities Include:
    • 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

    REQUIREMENTS

    Skills Required:
    • Postdoc with experience of working within Rare Diseases and Bioinformatics/Computational Biology and Systems Biology or equivalent work experience
    • Good knowledge of rare disease genomics
    • Have solid training in statistics 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 skillset in Bioinformatics and experience of working as a computational biologist
    • 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
    • Practical knowledge and understanding of statistics
    • 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

    COMPENSATION

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

    HOW TO APPLY

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

    Keywords: Rare, Disease, Analyst, Cancer, WGS, WES, Genomics, Bioinformatics, Pipelines, Statistics, Testing, Writing, Variants, Alignment, Statistical, Genetics, NGS, London

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