Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
نویسندگان
چکیده
منابع مشابه
Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis
Massively parallel sequencing is revolutionizing the genetic testing in diagnosis laboratories, replacing gene-by-gene investigations with a "gene panel" strategy. This new approach is particularly promising for the diagnosis of neuromuscular disorders affecting children as well as adults, which is constrained by strong clinical and genetic heterogeneity. While it leads to a strong improvement ...
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ژورنال
عنوان ژورنال: npj Genomic Medicine
سال: 2017
ISSN: 2056-7944
DOI: 10.1038/s41525-017-0006-7