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

E.L.M. Vissers, Lisenka; van Nimwegen, K.J.M.; Schieving, Jolanda; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; G. Yntema, Helger; Pfundt, Rolph; Jan van der Wilt, Gert; Krabbenborg, Lotte; G. Brunner, Han; van der Burg, Simone; P.C. Grutters, Janneke; A. Veltman, Joris; A.A.P. Willemsen, Michèl

doi:10.1038/gim.2017.1

Public

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

Published in Genetics in Medicine • Mar 23, 2017

Authors:

Lisenka E.L.M. Vissers

K.J.M. van Nimwegen

Jolanda Schieving

Abstract

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 ...

Subject

Exome sequencing

Medicine

Genetic testing

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