Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients
نویسندگان
چکیده
منابع مشابه
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a molecular diagnosis after standard-of-care assessment in Canada. FORGE (Finding Of Rare disease GEnes) Canada is a nation-wide project focused on identifying novel disease genes for rare pediatric diseases using whole-...
متن کاملCorrection: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan
[This corrects the article DOI: 10.1371/journal.pone.0170517.].
متن کاملComprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan
PURPOSE Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies among populations and has been scantly described in Asia. METHODS A total of 48 patients suspec...
متن کاملExome sequencing: dual role as a discovery and diagnostic tool.
Recent developments in high-throughput sequence capture methods and next-generation sequencing technologies have now made exome sequencing a viable approach to elucidate the genetic basis of Mendelian disorders with hitherto unknown etiology. In addition, exome sequencing is increasingly being employed as a diagnostic tool for specific genetic diseases, particularly in the context of those diso...
متن کاملWhole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these patients. We applied whole exome sequencing to six consanguineous families clinically diagnosed with ciliopathy-like disease, and for which mutations...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2014
ISSN: 0148-639X
DOI: 10.1002/mus.24344