Fundamentals of Clinical Genomics

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
education.

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.

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.

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

Course Fees:

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

Registration deadline: Closed

Accommodation
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
Centre directly.

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: www.ukba.homeoffice.gov.uk/visas-immigration/

Information for general visitors and business visitors: www.ukba.homeoffice.gov.uk/visas-immigration/visiting/business/business-activities/