Ontology highlight
ABSTRACT:
SUBMITTER: Mu W
PROVIDER: S-EPMC6752280 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Mu Wenbo W Li Bing B Wu Sitao S Chen Jefferey J Sain Divya D Xu Dong D Black Mary Helen MH Karam Rachid R Gillespie Katrina K Farwell Hagman Kelly D KD Guidugli Lucia L Pronold Melissa M Elliott Aaron A Lu Hsiao-Mei HM
Genetics in medicine : official journal of the American College of Medical Genetics 20181219 7
<h4>Purpose</h4>Structural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its high-throughput, low cost, and base-pair resolution. However, due to lack of standard NGS protocols and a limited number of clinical samples with pathogenic SVs, comprehensive standards for SV detection, interpretation, and reporting are to be established.<h4>Methods</h4>We performed SV assessment on 60,000 clinical samples teste ...[more]