Ontology highlight
ABSTRACT:
SUBMITTER: Umbarger MA
PROVIDER: S-EPMC3918543 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Umbarger Mark A MA Kennedy Caleb J CJ Saunders Patrick P Breton Benjamin B Chennagiri Niru N Emhoff John J Greger Valerie V Hallam Stephanie S Maganzini David D Micale Cynthia C Nizzari Marcia M MM Towne Charles F CF Church George M GM Porreca Gregory J GJ
Genetics in medicine : official journal of the American College of Medical Genetics 20130613 2
<h4>Purpose</h4>Carrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent in specific ethnic groups. We sought to develop a next-generation DNA sequencing-based workflow to enable analysis of a more comprehensive set of disease-causing mutations.<h4>Methods</h4>We utilized molecular inversion probes to capture the protein-coding regions of 15 genes from genomic DNA isolated from whole blood and sequenced t ...[more]