Practical Approaches to Exome Sequence Analysis – a Multidisciplinary Workshop

07/03/2017|Time: 10:00 - 16:30
Location: Mercure Exeter Rougemont Hotel, EX4 3SP
Organised by: South West NHS Genomic Medicine Centre

Event summary

The South West NHS Genomic Medicine Centre are holding a free multi-disciplinary training workshop on 07 March 2017 at the Rougemont Hotel, Exeter.

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, the number of talks has been reduced and more time has been allocated to exome data analysis. Guest speakers include Professor Bill Newman from Manchester and Christine Patch from Genomics England.

For more information, please see flyer here. To register, please email

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