This course type is laboratory

Exome Sequencing

06 - 14 October 2015Wellcome Genome Campus, Hinxton, UK
Deadlines (at 23:59 UTC):
  • Application Deadline Closed

  • Summary

    This laboratory- and computer-based training course provides a
    comprehensive overview of the latest principles and techniques for exome
    sequencing, also known as pulldown, sequence capture and targeted
    Participants will gain practical laboratory experience as well as
    training in variant calling, quality control, and association analysis.

    Solution hybrid capture is used to enrich for all known exon sequences
    (the exome) or for customised regions from genomic DNA, for the purpose
    of sequencing the regions of interest. The enriched targets are sequenced
    using next generation technology to a high coverage and analysed for
    variants. For comparison, the concepts for array CGH (aCGH) will be
    covered as an approach for analysing somatic DNA copy number variation,
    along with a broader overview of comparative genomics approaches.
    Preliminary analysis will take the form of mapping sequence to the
    reference and calculating quality metrics informing on sequence and
    mapping quality.Variants (SNPs, INDELs) will be called from the mapped

    With increased use of analytical methods using DNA isolated from formalin
    fixed clinical samples, attention will be paid to the consequences of
    sample processing, including duration of exposure to formalin fixation.

  • Programme

    The programme will include lecture and laboratory-based practical
    sessions covering the following topics:

    • Sample quality assessment and logistics
    • DNA fragmentation and quantification
    • DNA library preparation
    • Sequence capture
    • Bait design
    • Overview of Illumina sequencing
    • Sequence mapping
    • QC metrics
    • SNP/insertion/deletion calling
    • SNP consequence analysis
    • Protein impact analysis
    • Variant annotation
    • Case-only analysis
    • Case/control analysis
    • Rare SNP discovery
    • Impact of formalin fixation on data quality of exome sequencing and CGH analysis
    • Overview of comparative genomics approaches

    Teaching will be complemented by opportunities to interact with academic
    and technical experts working at the cutting-edge of the field.

  • Instructors / Speakers

    Course instructors
    Peter Ellis Wellcome Trust Sanger Institute, UK
    Robert Andrews Cardiff University, UK
    Matthew Breen North Carolina State University, USA
    Audrey Hendricks University of Colorado, USA

  • How to Apply

    Applicants should be post-doctoral scientists or third-year PhD students
    undertaking their own research, core-lab service providers are also
    encouraged to apply. Applicants must be familiar with standard molecular
    biology lab techniques. Basic UNIX skills and the ability to confidently
    use Excel are also required

    UK: The
    course is subsidised by the Wellcome Genome
    Campus Advanced Courses and Scientific Conferences Programme. This is a
    course and there is a fee of £1045 towards board and lodging
    for non-commercial applicants. Please contact us for the commercial fee.

    Applications for this course can now be completed online. If you have any
    problems with the online application process, please contact us.

    Please note: Applications
    must be supported by a
    recommendation from a scientific or clinical sponsor (e.g. supervisor or
    head of department). A request for a supporting
    statement will be sent
    to your nominated sponsor automatically during
    the application process.
    Applicants must ensure that their sponsor
    provides this supporting
    statement by the application deadline. Applications without a supporting
    statement cannot be considered.

    This course is now closed. Please contact the course organiser to be
    added to our mailing list.

  • Bursaries

    Advanced Courses are subsidised for non-commercial
    applicants from anywhere in the world. Limited bursaries are
    (up to 50% of the course fee) and are awarded on merit. If you would like
    to apply for a
    bursary, please complete the bursary section of the
    online application

    Please note that both the applicant
    and sponsor are required to provide
    a justification for the
    bursary as part of the application.

    Bursary terms and conditions

    UK Courses (held at the Wellcome Genome Campus, Hinxton,
    limited number of bursaries are available for each course. These are
    awarded by the selection committee according to merit. The bursary
    covers a maximum of 50% of the course fee, though in exceptional
    circumstances an application for the total course fee may be considered.
    Where there are many bursary applications, the selection committee may
    issue smaller amounts. We cannot assist with travel costs to attend UK

    Overseas Courses (held outside of the UK)
    limited number of bursaries are available for each course. These are
    awarded on merit to cover travel, accommodation and sustenance. The
    maximum award for travel (economy class) will be £750.

    Bursaries can be applied for as part of the course application form.
    will be notified of a bursary award along with their place on
    course, usually within one month of the application deadline. The
    decision of the selection committee is