Validation of Error-Corrected Sequencing for Hematological Malignancies
This webinar discusses a validation study for a next-generation sequencing (NGS) assay for hematological malignancies (e.g., acute myeloid leukemia, acute lymphocytic leukemia, myelodysplastic syndrome, and myeloproliferative neoplasms).
Diagnostic and prognostic testing methodologies in hematological malignancies are evolving beyond traditional chromosome analysis, fluorescent in situ hybridization, and single-analyte molecular testing toward NGS because it enables the detection of multiple molecular driver mutations and oncogenic fusions in a single assay. However, most NGS approaches are limited in their ability to detect fusions, or to detect known pathogenic variants in specific genes such as CEBPA and FLT3 without using additional molecular methodologies. The ability to quickly and accurately identify specific translocation partners and the presence of specific pathogenic variants is critical in the era of increasingly personalized treatment plans.
In this webinar, Drs. Catherine Rehder and Sarah Rapisardo at Duke University describes their efforts to validate the Archer VariantPlex Myeloid assay. They also discuss their work to expand testing with a custom Archer FusionPlex assay to detect known and novel fusions, with a focus on Ph-like ALL fusions.
Drs. Rehder and Rapisardo detail their initial proof-of-principle studies, which have demonstrated 100 percent concordance with their current assays, with superior coverage of previously problematic regions and significant improvements in library complexity.
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