Journal article
Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: Outcomes and lessons learned
R Ghaoui, ST Cooper, M Lek, K Jones, A Corbett, SW Reddel, M Needham, C Liang, LB Waddell, G Nicholson, G O'Grady, S Kaur, R Ong, M Davis, CM Sue, NG Laing, KN North, DG MacArthur, NF Clarke
JAMA Neurology | Published : 2015
Abstract
IMPORTANCE: To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. OBJECTIVE: To translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing failed to identify the genetic cause of their disorder. DESIGN, SETTING, AND PARTICIPANTS: We performed WES on 60 families with LGMDs (100 exomes). Data analysis was performed between January 6 and December 19, 2014, using the xBrowse bioinformatics interface (Broad Institute). Patients with LGMD were ..
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Awarded by National Human Genome Research Institute
Funding Acknowledgements
This work was supported by Australian National Health and Medical Research Council grant APP1074954 (Dr Ghaoui), grants APP1031893 and APP1022707 (Drs North, Laing, and Clarke), grant APP1035828 (Dr Clarke), grants APP1048814 and APP1048816 (Dr Cooper), and grant APP108433 (Dr Sue); by the Muscular Dystrophy New South Wales (Dr Ghaoui); and by the National Human Genome Research Institute of the National Institutes of Health (Medical Sequencing Program grant U54 HG003067 to Eric S. Lander, PhD, director of the Broad Institute and principal investigator of the National Human Genome Research Institute grant).