Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of...
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
About this item
Full title
Author / Creator
Kiewiet, Gea , Westra, Dineke , de Boer, Eddy N , van Berkel, Emma , Hofste, Tom G J , van Zweeden, Martine , Derks, Ronny C , Leijsten, Nico F A , Ruiterkamp-Versteeg, Martina H A , Charbon, Bart , Johansson, Lennart , Bos-Kruizinga, Janneke , Veenstra, Inge J , de Sain-van der Velden, Monique G M , Voorhoeve, Els , Heiner-Fokkema, M Rebecca , van Spronsen, Francjan , Sikkema-Raddatz, Birgit and Nelen, Marcel
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 inherited metabolic disorders (IMDs) and 50 control samp...
Alternative Titles
Full title
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Authors, Artists and Contributors
Author / Creator
Westra, Dineke
de Boer, Eddy N
van Berkel, Emma
Hofste, Tom G J
van Zweeden, Martine
Derks, Ronny C
Leijsten, Nico F A
Ruiterkamp-Versteeg, Martina H A
Charbon, Bart
Johansson, Lennart
Bos-Kruizinga, Janneke
Veenstra, Inge J
de Sain-van der Velden, Monique G M
Voorhoeve, Els
Heiner-Fokkema, M Rebecca
van Spronsen, Francjan
Sikkema-Raddatz, Birgit
Nelen, Marcel
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_693ce665f4784d2c83d6224c090b19b6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_693ce665f4784d2c83d6224c090b19b6
Other Identifiers
ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns10010020
