مورد إلكتروني
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform
| العنوان: | Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform |
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| المصدر: | Vaeth , S , Christensen , R , Dunø , M , Lildballe , D L , Thorsen , K , Vissing , J , Svenstrup , K , Hertz , J M , Andersen , H & Jensen , U B 2019 , ' Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform ' , European Journal of Medical Genetics , vol. 62 , no. 1 , pp. 1-8 . |
| بيانات النشر: | 2019-01 |
| تفاصيل مُضافة: | Vaeth, Signe Christensen, Rikke Dunø, Morten Lildballe, Dorte Launholt Thorsen, Kasper Vissing, John Svenstrup, Kirsten Hertz, Jens Michael Andersen, Henning Jensen, Uffe Birk |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the analysis of a handful of genes to the analysis of all genes associated with CMT in a single run. In this study we describe the CMT diagnostics in Denmark in 1992-2012, prior to the implementation of NGS, by combining laboratory- and national registry data. We investigate the effect of implementing a targeted NGS approach of 63 genes associated with CMT in the diagnostic laboratory setting. This was performed by analyzing a cohort of 195 samples from patients previously analyzed by Sanger sequencing and quantitative analysis for the common causes of CMT without reaching a molecular diagnosis. A total of 1442 CMT analyses were performed in Denmark in the period 1992-2012; a disease-causing variant was detected in 21.6% of the cases. Interestingly, the diagnosis was genetically confirmed in significantly more women than men; 25.9% compared to18.5%. In our study cohort, we found a 5.6% increase in the diagnostic yield with the introduction of a targeted NGS approach. |
| مصطلحات الفهرس: | Charcot-Marie-Tooth Disease/diagnosis, Denmark, Facilities and Services Utilization, Genetic Testing/methods, High-Throughput Nucleotide Sequencing/methods, Humans, Registries, Sequence Analysis, DNA/methods, article |
| URL: | |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | application/pdf English |
| أرقام أخرى: | DAV oai:pure.atira.dk:publications/d8647825-8778-4144-b118-126b9cecf4e1 1250228298 |
| المصدر المساهم: | UNIV OF COPENHAGEN From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1250228298 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |