Ontology highlight
ABSTRACT:
SUBMITTER: Richardson ME
PROVIDER: S-EPMC6752314 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Richardson Marcy E ME Chong Hansook H Mu Wenbo W Conner Blair R BR Hsuan Vickie V Willett Sara S Lam Stephanie S Tsai Pei P Pesaran Tina T Chamberlin Adam C AC Park Min-Sun MS Gray Phillip P Karam Rachid R Elliott Aaron A
Genetics in medicine : official journal of the American College of Medical Genetics 20180728 3
<h4>Purpose</h4>Gross duplications are ambiguous in terms of clinical interpretation due to the limitations of the detection methods that cannot infer their context, namely, whether they occur in tandem or are duplicated and inserted elsewhere in the genome. We investigated the proportion of gross duplications occurring in tandem in breast cancer predisposition genes with the intent of informing their classifications.<h4>Methods</h4>The DNA breakpoint assay (DBA) is a custom, paired-end, next-ge ...[more]