Start Date: 07/03/2017

End Date: 07/03/2017

Cost: Free

Venue: Rougemont Hotel, Exeter


South West NHS Genomic Medicine Centre

Our first workshop in September 2016 was over-subscribed and following many requests we are running it again on March 7th 2017. The feedback from the September workshop was extremely positive ("Excellent, instructive, informative - please run it again") and we hope that you will join us.

Please find attached a flyer for the event that has been organised by the  South West NHS Genomic Medicine Centre.  The workshop is fully funded so there is no cost for attendance.

Exome sequencing is a highly effective strategy for the molecular diagnosis of rare disorders but requires a multi-disciplinary approach where clinical scientists, referring clinical teams and other experts (where required) determine suitable cases for testing, interpret the results and decide on a management strategy.  This is a new way of working, bringing together the skills, experience and expertise of the clinical teams, clinical scientists and international genetic community to achieve a diagnosis for patients where this was previously not possible.

This multi-disciplinary training workshop on exome sequence analysis is aimed at clinical geneticists, genetic counsellors, genetics clinical scientists and bioinformaticians. The aim is to provide a forum for learning and sharing of ideas about the use of exome and genome sequence analysis to diagnose rare diseases. There will be a mixture of short talks and interactive workshops with hands on experience of different tools that aid genomic variant interpretation.  Following feedback from the last workshop we have reduced the number of talks and have allocated more time to exome data analysis. Guest speakers include Professor Bill Newman from Manchester and Christine Patch from Genomics England. 

To register your attendance, please email

It would be helpful if you could state your profession in your registration email so that we can make sure that the workshop groups are well balanced.

Sian Ellard and Emma Baple

Contact Details:

To register your attendance, please email