Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders

Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for molecular diagnosis of pediatric endocrine disorders. NGS has...

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Bibliographic Details
Main Authors: Maki Fukami, Mami Miyado
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2017-06-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Next-generation sequencer
Mutation
Comparative genomic hybridization
DNA Copy-number variations
Diagnosis
Online Access:http://e-apem.org/upload/pdf/apem-22-90.pdf

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