[Detection of pathogenic mutations for XXXX using new-generation semiconductor targeted sequencing.]

@entity1 @entity2190 @entity71875 @entity2185 @entity71877 @entity71876 @entity74 @entity71878
UNASSIGNED: OBJECTIVE To detect the pathogenic mutation in a @entity1 with @entity2185 using IonTorrent Personal Genome Machine (PGM) and assess the feasibility of such technology for analyzing complex monogenic diseases. METHODS Peripheral blood sample was collected from the @entity1 . Genomic DNA was isolated using a standard method and subjected to targeted sequencing using an Ion Ampliseq Inherited Disease Panel. DNA fragment was ligated with a barcoded sequencing adaptor. Template preparation, emulsion PCR, and Ion Sphere Particles enrichment were carried out using the Ion One Touch system. Data from the PGM runs were processed using Ion Torrent Suite 3.2 software to generate sequence reads. All variants were filtered against dbSNPl37. DNA sequences were visualized with an Integrated Genomics Viewer. RESULTS After data analysis and database filtering, a previously reported nonsense mutation, @entity71875 ( @entity71876 ), and a novel mutation @entity71877 ( @entity71878 ) were identified in the @entity2190 gene in this @entity1 . Both mutations were verified by conventional Sanger sequencing. Conclusion Pathogenic @entity2190 mutations have been identified in a @entity1 with @entity2185 . This new-generation targeted sequencing on the PGM sequencers can be applied for genetic diagnosis of @entity74 .
