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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 Loree
Published 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.
Keyphrases
  • rna seq
  • single cell
  • copy number
  • genome wide
  • bioinformatics analysis
  • genome wide identification
  • immune response
  • squamous cell carcinoma
  • dna methylation
  • small cell lung cancer
  • genome wide analysis
  • young adults