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The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases

Article type: Review Article

Authors: Lek, Monkol; ; ; ; | MacArthur, Daniel; ;

Affiliations: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA | Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA | Department of Medicine, Harvard Medical School, Boston, MA, USA | Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia | Institute for Neuroscience and Muscle Research, Sydney, NSW, Australia

Note: [] Correspondence to: Monkol Lek, Tel.: +1 617 726 5936; Fax: +1 617 643 3293; Email: lek@atgu.mgh.harvard.edu

Keywords: exome sequencing, neurogenetics, muscle disease, next generation sequencing

DOI: 10.3233/JND-140032

Journal: Journal of Neuromuscular Diseases, vol. 1, no. 2, pp. 135-149, 2014

Published: 2014
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Abstract

New genomic technologies, such as exome, whole-genome and transcriptome sequencing, are transforming the genetic diagnosis of neuromuscular diseases and dramatically accelerating the discovery of new disease-associated genes. The increasingly widespread availability of these technologies creates both opportunities and challenges for neuromuscular disease researchers. Here we survey the current literature on the application of new genomic technologies to the diagnosis of severe muscle diseases, with a focus on assessment of the approaches used for data processing, analysis and interpretation. We also highlight several key areas requiring improvement.

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