Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders

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• 作者：J. M. Bastida ; M. del Rey ; M. L. Lozano ; M. E. Sarasquete ; R. Benito ; M. E. Fontecha ; R. Fisac ; L. J. Garcí ; a-Frade ; C. Aguilar ; M. P. Martí ; nez ; E. Pardal ; C. Aguilera ; B. Pé ; rez ; R. Ramos ; M. R. Cardesa ; J. M. Martin-Antor&#225 ; n ; L. A. Silvestre ; M. J. Cebeira ; N. Bermejo ; S. Riesco ; M. C. Mendoza ; R. Garcí ; a-Sanz ; M. Gonz&#225 ; lez-Dí ; az ; J. M. Hern&#225 ; ndez-Rivas and J. R. Gonz&#225 ; lez-Porras
• 刊名：Haemophilia
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：22
• 期：4
• 页码：590-597
• 全文大小：98K
• ISSN：1365-2516

文摘

Molecular testing of Inherited bleeding coagulation disorders (IBCDs) not only offers confirmation of diagnosis but also aids in genetic counselling, prenatal diagnosis and in certain cases genotype–phenotype correlations are important for predicting the clinical course of the disease and to allow tailor-made follow-up of individuals. Until recently, genotyping has been mainly performed by Sanger sequencing, a technique known to be time consuming and expensive. Currently, next-generation sequencing (NGS) offers a new potential approach that enables the simultaneous investigation of multiple genes at manageable cost.