Article
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.
Human mutation - 1 Mar 2015
De Leeneer Kim, Hellemans Jan, Steyaert Wouter, Lefever Steve, Vereecke Inge, Debals Eveline, Crombez Brecht, Baetens Machteld, Van Heetvelde Mattias, Coppieters Frauke, Vandesompele Jo, De Jaegher Annelies, De Baere Elfride, Coucke Paul, Claes Kathleen
Abstract excerpt
The release of benchtop next-generation sequencing (NGS) instruments has paved the way to implement the technology in clinical setting. The need for flexible, qualitative, and cost-efficient workflows is high. We used singleplex-PCR for highly efficient target enrichment, allowing us to reach the quality standards set in Sanger sequencing-based diagnostics. For the library preparation, a modified NexteraXT...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.