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    Opportunity: Senior Bioinformatician -- Human Genetics @ Genomics England -- London, UK
    Submitted by Eugene McDaid; posted on Thursday, March 05, 2020



    Following the successful completion of one of the largest genomic projects the world has ever seen – the 100,000 Genomes Project – Genomics England are expanding on an ambitious new venture that seeks to sequence the whole genomes of 5 million patients within the next five years. This revolutionary government-funded initiative has produced a wealth of data that could provide crucial insights into rare diseases and cancers, revolutionising healthcare and unlocking a new generation of treatments and diagnostic options that were never before possible.

    The work that Genomics England have accomplished could not be achieved without the invaluable contribution of their expert team of Rare Disease Analysts. We are now looking to grow the team and are interested in speaking with experienced Senior Bioinformaticians/Statistical Geneticists/Data Analysts who share our passion and have experience of (or a keen interest in) working in the field of mendelian genetics, rare diseases or inherited disease.


    Key responsibilities 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
    • Monitoring quality of WGS data
    • Establishing general bioinformatics resources for day-to-day use by colleagues


    Desired skills/experience include:
    • PhD (or equivalent experience) in Bioinformatics, Statistical Genetics, Population Genetics, Systems Biology or a related discipline
    • Ideally some post-doctoral experience of working with Rare Diseases or menedelian genetics
    • Strong understanding of inherited disease and human genetics
    • Solid knowledge of family based analysis and knowledge of association testing
    • Practical knowledge and understanding of statistics
    • Experience with full cycle of analysing NGS data from sequencing QC to annotation and prioritization of variants
    • Experience with handling large data sets and setting pipelines
    • 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
    • Great communication skills, with a 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


    On offer is a competitive salary package, stimulating projects and a fast-paced work environment.


    If you would like to find out more about this fantastic opportunity, send your CV to efrancis[at], or call Emilie for an informal chat on 0121 616 3477.

    Key words: Statistical Genetics, rare disease, inherited disease, mendelian, population genetics, Bioinformatics, Whole genome sequencing, genetics, rare variants, 100,000 Genome Project, Statistical geneticist, machine learning

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