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Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders
- Source :
- Annals of Pediatric Endocrinology & Metabolism, Annals of Pediatric Endocrinology & Metabolism, Vol 22, Iss 2, Pp 90-94 (2017)
- Publication Year :
- 2017
- Publisher :
- The Korean Society of Pediatric Endocrinology, 2017.
-
Abstract
- 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 determined the frequency and phenotypic variation of mutations in several disease-associated genes. Furthermore, whole exome analysis using NGS has successfully identified several novel causative genes for endocrine disorders. Array CGH is currently used as the standard procedure for molecular cytogenetic analysis. Array CGH can detect various submicroscopic genomic rearrangements involving exons or enhancers of disease-associated genes. This review introduces some examples of the use of NGS and array CGH for the molecular diagnosis of pediatric endocrine disorders.
- Subjects :
- 0301 basic medicine
Genetics
Comparative genomic hybridization
business.industry
Endocrinology, Diabetes and Metabolism
lcsh:RJ1-570
Copy number analysis
lcsh:Pediatrics
Review Article
Phenotype
DNA sequencing
03 medical and health sciences
Exon
030104 developmental biology
Next-generation sequencer
Pediatrics, Perinatology and Child Health
Mutation
Diagnosis
Medicine
business
Gene
Exome
Virtual karyotype
DNA Copy-number variations
Subjects
Details
- Language :
- English
- ISSN :
- 22871292 and 22871012
- Volume :
- 22
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Annals of Pediatric Endocrinology & Metabolism
- Accession number :
- edsair.doi.dedup.....135329f4c8807541d2a91dd54ef7014d