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01-06-2014 | Journal club

Applications of next-generation whole exome sequencing

Authors: Katharine E. Harding, Neil P. Robertson

Published in: Journal of Neurology | Issue 6/2014

Excerpt

Since the publication of the first human genome in 2001, significant advances in understanding the genetic aetiology of neurological diseases have been made. However, genetic heterogeneity, relative rarity of clinical presentation, and high cost of current genetic sequencing methods have limited identification of causative mutations in many other patients. It is becoming apparent that a range of mutations may cause similar clinical phenotypes, which means that consecutive Sanger sequencing of individual genes is time consuming and very expensive, and still may not provide a final answer. …

Title: Applications of next-generation whole exome sequencing
Authors: Katharine E. Harding
Neil P. Robertson
Publication date: 01-06-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 6/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-014-7372-1

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Applications of next-generation whole exome sequencing

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