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    Opportunity: Senior Bioinformatician @ Genomics England -- London, UK
    Submitted by Eugene McDaid; posted on Tuesday, November 26, 2019



    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.

    Now, Genomics England are supporting external researchers and industrial partners by facilitating access to the data generated from the 100K Genome Project, and fuelling further ground-breaking research and drug discovery projects. This would couldn't be done without the outstanding support of the Bioinformatics Research Services team, who provide expert custom analysis and ensure optimal usage of the data. Experts in their field, the team is comprised of Statistical Geneticists, Bioinformaticians and Computational Biologists. 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 working with (or a strong interest in) human genetics, WGS or GWAS data, Statistical or Population genetics.


    Key responsibilities include:
    • 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


    Desired skills/experience include:
    • Extensive experience in analysis of large-scale genomic data using bioinformatics tools and pipelines
    • Demonstrable experience in using next generation sequencing data, cohort data, GWAS or WGS
    • 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


    On offer is a competitive salary package, generous holidays, 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 (+44) 121 616 34677 to discuss this opportunity further.

    Key words: Statistical Genetics, rare disease, clinical data, cancer research, oncology, population genetics, Bioinformatics, GWAS, Genome wide association studies, Whole genome sequencing, WGS, human genetics, rare variants, 100,000 Genome Project, Statistical geneticist, machine learning, London

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