Practical approaches to exome sequence analysis workshop – 19 September


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.

For more information click here.

To see the agenda click here.

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