ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 90 citations in OpenAlex.
- Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.World journal of clinical pediatrics · 2024Article
- Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.Scientific reports · 2023Article
- Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis.Journal of personalized medicine · 2022Article
- Direct comparison of circulating tumor DNA sequencing assays with targeted large gene panels.PloS one · 2022Article
- Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.Scientific reports · 2021Article
- The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.Orphanet journal of rare diseases · 2020Article
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.Frontiers in neurology · 2020Article
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.Acta ophthalmologica · 2019Article
- Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Article
- Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.Sultan Qaboos University medical journal · 2015Article
- Assessing copy number alterations in targeted, amplicon-based next-generation sequencing data.The Journal of molecular diagnostics : JMD · 2015Article
- Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.American journal of clinical pathology · 2014Article
- Target enrichment using parallel nanoliter quantitative PCR amplification.BMC genomics · 2014Article
- Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment.PloS one · 2014Article
- The promise of whole-exome sequencing in medical genetics.Journal of human genetics · 2014Review
- Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.Molecular genetics and metabolism · 2013Article
- Next-generation sequencing in the clinic: promises and challenges.Cancer letters · 2013Review
- Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.BMC genetics · 2013Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
purposeCongenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders of glycosylation patients lack a confirmatory molecular diagnosis. The purpose of this study was to improve molecular diagnosis for congenital disorders of glycosylation by developing and validating a next generation sequencing panel for comprehensive mutation detection in 24 genes known to cause congenital disorders of glycosylation.
methodsNext generation sequencing validation was performed on 12 positive control congenital disorders of glycosylation patients. These samples were blinded as to the disease-causing mutations. Both RainDance and Fluidigm platforms were used for sequence enrichment and targeted amplification. The SOLiD platform was used for sequencing the amplified products. Bioinformatic analysis was performed using NextGENe® software.
resultsThe disease-causing mutations were identified by next generation sequencing for all 12 positive controls. Additional variants were also detected in three controls that are known or predicted to impair gene function and may contribute to the clinical phenotype.
conclusionsWe conclude that development of next generation sequencing panels in the diagnostic laboratory where multiple genes are implicated in a disorder is more cost-effective and will result in improved and faster patient diagnosis compared with a gene-by-gene approach. Recommendations are also provided for data analysis from the next generation sequencing-derived data in the clinical laboratory, which will be important for the widespread use of this technology.
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Registered trials
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