Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
My Linh ThibodeauKieran O'NeillKatherine DixonCaralyn ReisleKaren L MungallMartin KrzywinskiYaoqing ShenHoward J LimDean ChengKane TseTina WongEric ChuahAlexandra FokSophie SunDaniel RenoufDavid F SchaefferCarol CreminStephen ChiaSean YoungPawan PandohStephen PleasanceErin PleasanceAndrew J MungallRichard MooreStephen YipAly KarsanJanessa LaskinMarco A MarraKasmintan A SchraderSteven J M JonesPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our findings demonstrate that long-read sequencing can improve the validation, resolution, and classification of germline SVs. This has important implications for return of results, cascade carrier testing, cancer screening, and prophylactic interventions.