Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Simultaneous analysis of multiple genes using next‐generation sequencing (NGS) technology has become widely available. Copy‐number variations (CNVs) in disease‐associated genes have emerged as a cause for several hereditary disorders. CNVs are, however, not routinely detected using NGS analysis. The...

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Publicat a:Hum Mutat
Autors principals: Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175145/
https://ncbi.nlm.nih.gov/pubmed/29907982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23565
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