This course type is lecture

Fundamentals of Clinical Genomics

13 - 15 January 2016Wellcome Genome Campus, Hinxton, UK
Deadlines (at 23:59 UTC):
  • Registration Deadline Closed

  • Summary

    This workshop will address the fundamental aspects of human genetics and
    genomics that underpin clinical practice, focusing on the latest
    scientific, technological and bioinformatics developments. It’s aimed at
    consultants and trainees in clinical genetics currently employed in the
    UK. The re-vamped 2016 workshop is designed to equip attendees with the
    skills required to work, teach and publish in the era of next-generation

    The programme covers the following areas: genomic variation; sequence
    data analysis; gene transcription; gene regulation and gene-environment
    interactions; phenotyping; disease mechanisms and mosaicism; choosing the
    most appropriate test and evaluating the results. This year’s course will
    feature two workshops. The first will focus on variant interpretation,
    which will include information on the resources available to filter and
    interpret data from genome-wide assays. The second will equip attendees
    with the skills to write a genotype-phenotype paper and provide advice on
    navigating the pathway to publication. There will also be a new session
    focusing on genomics education.

    This workshop has been running since 2008 and is endorsed by the Clinical
    Genetics Society and the Royal College of Physicians, London, for
    continuing professional development of clinical geneticists and is
    relevant for revalidation. CPD accreditation (18 credits) has been
    approved by the Royal College of Physicians. 

    Numbers are limited on this residential workshop to optimize discussions
    and interactions with tutors; therefore, early registration is

  • Programme

    The workshop will start at approximately 10.00 on Wednesday 13
    January 2016, and close at approximately 16.00 on Friday 15 January 2016.

    Scientific sessions

    • Variation in the human genome
    • Genes and transcription
    • Gene regulation and gene-environment interactions
    • Mosaicism and molecular mechanisms of disease
    • Variant interpretation and resources
    • Bioinformatics
    • Genetic testing and evaluation of results
    • How to teach genomics
    • Next-generation phenotyping
    • Toolkit for genotype-phenotype correlation
  • Organisers / Speakers

    Scientific organiser
    Helen Firth Addenbrooke’s Hospital, UK

    Confirmed tutors
    Jeff Barrett
    Wellcome Trust Sanger Institute, UK
    David FitzPatrick
    MRC Human Genetics Unit,
    Richard Gibbons
    University of Oxford,
    Matt Hurles
    Wellcome Trust Sanger Institute, UK 
    Jane Hurst
    Great Ormond Street Hospital, UK
    Andrew Read University of Manchester, UK 
    Peter Robinson
    Charité-Universitätsmedizin Berlin, 
    Steve Scott Wellcome Genome Campus, UK
    Sarah Smithson
    University of  Bristol, UK
    Jawahar Swaminathan Wellcome Trust Sanger Institute,
    Kate Tatton-Brown
    St George’s University, UK
    Andrew Wilkie
    University of Oxford, UK
    Caroline Wright Wellcome Trust Sanger Institute,

    Event organiser
    Jemma Beard Wellcome Genome Campus, UK

  • Registration / Accommodation

    Registration Fees:

    Consultant On site single accommodation £360
    Trainee On site single accommodation £285

    The registration fee includes accommodation, entrance to all lectures, a copy of the course materials, all meals and refreshments during the workshop.

    Registration deadline: Closed 

    Accommodation is provided for the nights of 13 and 14 January 2016.
    Please note there is limited on-site accommodation and this will be
    allocated on a first-come first-served basis. Therefore, early
    registration is recommended.

    If you wish to book onsite accommodation either side of the workshop
    dates, please contact the Conference Centre directly.