A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

PURPOSE: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior...

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Udgivet i:Genet Med
Main Authors: Vissers, Lisenka E.L.M., van Nimwegen, Kirsten J.M., Schieving, Jolanda H., Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Yntema, Helger G., Pfundt, Rolph, van der Wilt, Gert Jan, Krabbenborg, Lotte, Brunner, Han G., van der Burg, Simone, Grutters, Janneke, Veltman, Joris A., Willemsen, Michèl A.A.P.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
Fag:
Original Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5589982/
https://ncbi.nlm.nih.gov/pubmed/28333917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.1
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