Ontology highlight
ABSTRACT:
SUBMITTER: Hartman P
PROVIDER: S-EPMC6403447 | biostudies-other | 2019 Jun
REPOSITORIES: biostudies-other
Hartman Paige P Beckman Kenneth K Silverstein Kevin K Yohe Sophia S Schomaker Matthew M Henzler Christine C Onsongo Getiria G Lam Ham Ching HC Munro Sarah S Daniel Jerry J Billstein Bradley B Deshpande Archana A Hauge Adam A Mroz Pawel P Lee Whiwon W Holle Jennifer J Wiens Katie K Karnuth Kylene K Kemmer Teresa T Leary Michaela M Michel Stephen S Pohlman Laurie L Thayanithy Venugopal V Nelson Andrew A Bower Matthew M Thyagarajan Bharat B
Molecular genetics and metabolism reports 20190301
Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation of a single broad-based NGS sequencing assay to meet the genetic testing needs at the University of Minnesota. A single hybrid capture library preparation was used for each test ordered, data was informatically blinded to clinically-ordered genes, and ...[more]