Fundamentals of Clinical Genomics

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
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 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
advised.

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

Scientific organiser
Helen Firth Addenbrooke’s Hospital, UK

Confirmed tutors
Jeff Barrett Wellcome Trust Sanger Institute, UK
David FitzPatrick MRC Human Genetics Unit,
UK
Richard Gibbons University of Oxford,
UK  
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,
Germany
Steve Scott Wellcome Genome Campus, UK
Sarah Smithson University of  Bristol, UK
Jawahar Swaminathan Wellcome Trust Sanger Institute,
UK
Kate Tatton-Brown St George’s University, UK
Andrew Wilkie University of Oxford, UK
Caroline Wright Wellcome Trust Sanger Institute,
UK   

Event organiser
Jemma Beard Wellcome Genome Campus, UK

Registration Fees:

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
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.