{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:40:56Z","timestamp":1792644056006,"version":"4.5.0"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,2,15]],"date-time":"2016-02-15T00:00:00Z","timestamp":1455494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Molecular testing of Inherited bleeding coagulation disorders (<jats:styled-content style=\"fixed-case\">IBCD<\/jats:styled-content>s) not only offers confirmation of diagnosis but also aids in genetic counselling, prenatal diagnosis and in certain cases genotype\u2013phenotype correlations are important for predicting the clinical course of the disease and to allow tailor\u2010made follow\u2010up of individuals. Until recently, genotyping has been mainly performed by Sanger sequencing, a technique known to be time consuming and expensive. Currently, next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) offers a new potential approach that enables the simultaneous investigation of multiple genes at manageable cost.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>The aim of this study was to design and to analyse the applicability of a 23\u2010gene <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> panel in the molecular diagnosis of patients with <jats:styled-content style=\"fixed-case\">IBCD<\/jats:styled-content>s.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A custom target enrichment library was designed to capture 31 genes known to be associated with <jats:styled-content style=\"fixed-case\">IBCD<\/jats:styled-content>s. Probes were generated for 296 targets to cover 86.3 kb regions (all exons and flanking regions) of these genes. Twenty patients with an <jats:styled-content style=\"fixed-case\">IBCD<\/jats:styled-content>s phenotype were studied using <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> technology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In all patients, our <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> approach detected causative mutations. Twenty\u2010one pathogenic variants were found; while most of them were missense (18), three deletions were also identified. Six novel mutations affecting <jats:italic>F8<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">FGA<\/jats:styled-content><\/jats:italic>,<jats:italic> F11, F10<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content><\/jats:italic> genes, and 15 previously reported variants were detected. <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> and Sanger sequencing were 100% concordant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results demonstrate that this approach could be an accurate, reproducible and reliable tool in the rapid genetic diagnosis of <jats:styled-content style=\"fixed-case\">IBCD<\/jats:styled-content>s.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.12908","type":"journal-article","created":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T08:01:44Z","timestamp":1455609704000},"page":"590-597","source":"Crossref","is-referenced-by-count":52,"title":["Design and application of a 23\u2010gene panel by next\u2010generation sequencing for inherited coagulation bleeding disorders"],"prefix":"10.1111","volume":"22","author":[{"given":"J. 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