Uncovering Clinically Relevant Gene Fusions with Integrated Genomic and Transcriptomic Profiling of Metastatic Cancers.
Erica S TsangCameron J GrisdaleErin D PleasanceJames T TophamAndrew J MungallCaralyn ReisleCaleb ChooMarcus CarreiraReanne BowlbyJoanna M KarasinskaDaniel MacMillanLaura M WilliamsonEric ChuahRichard A MooreYongjun ZhaoBasile Tessier-CloutierTony NgSophie SunHoward J LimDavid F SchaefferDaniel J RenoufStephen YipJanessa LaskinMarco A MarraSteven J M JonesJonathan M LoreePublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2020)
Utilizing WGS/RNA-seq facilitates identification of novel fusions in clinically relevant genes, and detected a greater proportion than commercially available panels are expected to find. A significant benefit of WGS and RNA-seq is the innate ability to retrospectively identify variants that becomes clinically relevant over time, without the need for additional testing, which is not possible with panel-based approaches.