Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
نویسندگان
چکیده
منابع مشابه
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
BACKGROUND Next generation sequencing has become the core technology for gene discovery in rare inherited disorders. However, the interpretation of the numerous sequence variants identified remains challenging. We assessed the application of exome sequencing for diagnostics in complex I deficiency, a disease with vast genetic heterogeneity. METHODS Ten unrelated individuals with complex I def...
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Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects. WES was performed on 50 subjects ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2012
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2012-100846