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    Opportunity: Senior Rare Disease Analyst -- Genomics @ Genomics England -- London, UK
    Submitted by Eugene Mc Daid; posted on Tuesday, December 11, 2018



    Paramount are working in partnership with Genomics England to expand their team in order to deliver success as they move beyond the 100,000 Genomes Project. Genomics England will work with NHSE to launch the world's first Genomic Medicine Service within a national healthcare system. In partnership with government, the NHS, academia, industry and the public, Genomics England aims to realise the potential of genomic medicine: to embed state-of-the-art care in the NHS; bring health benefits to UK citizens; and consolidate the UK's position as the 'go to' destination for international genomic research and investment.

    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 NHS England and third party users.

    Genomics England has delivered automated variant classification for the Rare Disease and Cancer Programmes of the 100,000 Genomes Project and will now apply its expertise to supporting NHS England's Genomic Medicine Service.

    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 

    • Automated high throughput processing and variant classification
    • 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 and study of non-tumour genomes.


    Key Accountabilities:
    • Benchmarking tools for quality control, processing and analysis of whole genome sequence data, e.g, alignment, variant callers for variants of different size ranges
    • Performing custom analysis for a range of projects
    • Developing and prototyping new features for genome analysis in collaboration with internal and potentially external stakeholders
    • Collaborating with software developers responsible for converting prototypes to production pipelines
    • Establishing general bioinformatics resources for day-to-day use by colleagues


    Skills Required:
    • MSc or PhD (or equivalent experience) in Bioinformatics or relevant subject or equivalent work experience
    • Expertise in one or more areas of human DNA analysis, such as rare disease genomics, family based analysis, genetic association testing, common disease genomics / risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR
    • Relevant professional experience, e.g. postdoctoral
    • Substantial hands-on experience analysing exome or whole genome sequencing data
    • Familiar with Unix and use of high performance computing clusters
    • Proficient in using R and/or Python to manipulate, visualise and analyse data and achieve tasks programmatically
    • Familiar with software version control
    • A demonstrable ability to balance competing demands and deliver to deadlines
    • Ability to communicate effectively within a multidisciplinary team
    • Flexible and co-operative approach to colleagues
    • Ability to work well both independently and as part of a team
    • Practical knowledge of statistics and/or machine learning
    • Strong programming skills


    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: Senior, Rare, Disease, Analyst, WGS, WES, DNA, HPC, Python, Version, Control, Genomics, Bioinformatics, Pipelines, Statistics, Testing, Writing, Variants, NGS, London, Fixed-Term.

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