Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

• Main Authors: Gea Kiewiet (Author), Dineke Westra (Author), Eddy N. de Boer (Author), Emma van Berkel (Author), Tom G. J. Hofste (Author), Martine van Zweeden (Author), Ronny C. Derks (Author), Nico F. A. Leijsten (Author), Martina H. A. Ruiterkamp-Versteeg (Author), Bart Charbon (Author), Lennart Johansson (Author), Janneke Bos-Kruizinga (Author), Inge J. Veenstra (Author), Monique G. M. de Sain-van der Velden (Author), Els Voorhoeve (Author), M. Rebecca Heiner-Fokkema (Author), Francjan van Spronsen (Author), Birgit Sikkema-Raddatz (Author), Marcel Nelen (Author)
• Format: Book
• Published: MDPI AG, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS) from 50 patients with genetically confirmed inheri...