This course type is lecture

Fundamentals of Clinical Genomics

17 - 19 January 2018Wellcome Genome Campus, Hinxton, UK
Deadlines (at 23:59 UTC):
  • Registration Deadline Closed

  • Summary

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

    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 use the ACMG variant classification and assessment
    tools in DECIPHER. There will also be a session focusing on genomics

    First held in 2008, this course 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. This course has been awarded 18 CPD credits by the Royal
    College of Physicians.

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

    Learning outcomes
    After attending this course, participants will be able to:

    • Appreciate the extent of variation in the human genome.
    • Describe the current concept of a gene (including structure, transcription and regulation).
    • Consider the sensitivity and specificity of various approaches to genomic analysis (e.g. filtering strategies, virtual panels, whole exome sequencing/whole genome sequencing, proband only and trio analysis).
    • Select appropriate resources (e.g. ExAC, gnomAD) to evaluate variants.
    • Use the repertoire of tools in DECIPHER including the ACMG variant classification tool and the assessment tool.
  • Programme

    The workshop will start at approximately 10.00 on Wednesday 17 January
    2018, and close at approximately 16.30 on Friday 19 January 2018.

    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
    • Evaluation of results from genome-wide sequencing
    • Next-generation phenotyping
    • How to teach genomics

    The programme
    is available.

  • Instructors / Speakers

    Scientific programme committee
    Helen Firth
    Addenbrooke’s Hospital, UK

    Confirmed Tutors
    Jeff Barrett Wellcome Trust Sanger Institute, UK
    David FitzPatrick University of Edinburgh, UK
    Richard Gibbons University of Oxford, UK
    Matthew Hurles Wellcome Trust Sanger Institute, UK
    Andrew Read Centre for Genomic Medicine, UK
    Peter Robinson The Jackson Laboratory for Genomic
    Medicine, USA
    Steve Scott Wellcome Genome Campus, UK
    Sarah Smithson University Hospitals Bristol, UK
    Kate Tatton-Brown ICR/St George’s Hospital, UK
    Andrew Wilkie University of Oxford, UK
    Caroline Wright University of Exeter, UK

    Event organiser
    Zoey Willard Wellcome Genome Campus, UK

  • Registration / Accommodation

    Course Fees:

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

    The fee includes accommodation, entrance to the lectures, course
    materials, meals and refreshments during the course.

    Registration deadline: Closed

    Accommodation is provided for the nights of 17 and 18 January 2018. If
    you wish to book onsite accommodation either side of the course dates,
    please contact the Conference

    Travel visas
    Contact the conference organiser if you require a letter to support a
    travel visa application. Please note: letters will only be provided to
    confirmed registrants.

    Non-European Economic Area or Swiss nationals may be required to have a
    visa to enter the UK. 
    Early application is strongly advised, as this process can take 6-8 weeks
    or longer.

    Please visit the following websites for further information:
    UK Border Agency website:

    Information for general visitors and business visitors: