Intronic breakpoint signatures enhance detection and characterization of clinically relevant germline structural variants

Publication date: Available online 20 February 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Jeroen van den Akker, Lawrence Hon, Anjana Ondov, Ziga Mahkovec, Robert O’Connor, Raymond C. Chan, Justin Lock, Anjali D. Zimmer, Asha Rostamianfar, Jeremy Ginsberg, Annette Leon, Scott Topper

Source: The Journal of Molecular Diagnostics - February 20, 2021 Category: Pathology Source Type: research