Nike Beaubier, Robert Tell, Denise Lau, Jerod R. Parsons, Stephen Bush, Jason Perera, Shelly Sorrells, Timothy Baker, Alan Chang, Jackson Michuda, Catherine Iguartua, Shelley MacNeil, Kaanan Shah, Philip Ellis, Kimberly Yeatts, Brett Mahon, Timothy Taxter, Martin Bontrager, Aly Khan, Robert Huether, Eric Lefkofsky, and Kevin P. White
We developed and clinically validated a hybrid capture next generation sequencing assay to detect somatic alterations and microsatellite instability in solid tumors and hematologic malignancies. This targeted oncology assay utilizes tumor-normal matched samples for highly accurate somatic alteration calling and whole transcriptome RNA sequencing for unbiased identification of gene fusion events. The assay was validated with a combination of clinical specimens and cell lines, and recorded a sensitivity of 99.1% for single nucleotide variants, 98.1% for indels, 99.9% for gene rearrangements, 98.4% for copy number variations, and 99.9% for microsatellite instability detection. This assay presents a wide array of data for clinical management and clinical trial enrollment while conserving limited tissue.
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