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Updated: Jun 20, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Development and performance evaluation of a comprehensive genomic profiling assay for hematological malignancies]
Yasunori Kogure1, Yuji Oshikawa-Kumade1,2, Suguru Fukuhara3
1Division of Molecular Oncology, National Cancer Center Research Institute.
None:
Evaluation of genetic alterations is important for diagnosis, treatment selection, and prognostic assessment in hematological malignancies, but no comprehensive genomic profiling (CGP) assays for hematological malignancies have been approved for manufacturing and marketing in Japan. We have developed a CGP assay for the analysis of genetic alterations (specifically, mutations, structural variations, and fusion genes) in 452 genes, along with a corresponding analysis and reporting system that runs on Amazon Web Services. This CGP assay, named HemeSight®, successfully detected genetic alterations with an allele frequency of 5-10% in limit of detection testing using non-clinical samples. In testing using human clinical samples, it showed high positive percent agreement (94.4% for mutations, 94.7% for IGH rearrangements [structural variations], and 100% for fusion genes) compared with established clinical tests.
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