Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
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ABSTRACT:
SUBMITTER: Nigro V
PROVIDER: S-EPMC3631804 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Publications
Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
Nigro Vincenzo V Piluso Giulio G
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20121201 3
Next generation sequencing (NGS) technologies offer the possibility to map entire genomes at affordable costs. This brings the genetic testing procedure to a higher level of complexity. The positive aspect is the ease to cope with the complex diagnosis of genetically heterogeneous disorders and to identify novel disease genes. Worries arise from the management of too many DNA variations with unpredictable meaning and incidental findings that can cause ethical and clinical dilemmas. The technolog ...[more]
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