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Reference Standards for the Validation of Myeloid Sequencing Assays
Poster Title: Reference Standards for the Validation of Myeloid Sequencing Assays
Submitted on 24 Oct 2018
Author(s): M. Wang, H. Child, J. Stombaugh, M. Jakubowski, C. Peck, K. Cook, Y. Cheng, Z. Tu, J. Wickenden
Affiliations: Horizon Discovery Group
This poster was presented at American Society of Human Genetics Annual Meeting 2018
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Poster Information
Abstract: With the advent of more robust sequencing capabilities, pathogenic mutations have now been identified in genes from 5 main groups: signalling pathway proteins (e.g. CBL), transcription factors (e.g. RUNX1), epigenetic regulators (e.g. ASXL1), tumor suppressors (e.g. TP53) and components of the spliceosome (e.g. SF3B1). A recent influx of new myeloid gene panels for sequencing of these genes requires rigorous validation to ensure sufficient clinical accuracy, as errors can often occur in library prep, sequencing, analysis and interpretation of results. In order to support this effort, Horizon has developed a novel cell-line derived reference standard containing 22 variants across 19 genes involved in all of the main pathway groups, including CBL, RUNX1, ASXL1, TP53, SF3B1, JAK2, FLT3, ABL, KRAS and DNMT3A.Summary: Myeloid neoplasms are diseases of the hematopoietic stem cells. They can be categorised into five primary types based on WHO classification, with Acute Myeloid Leukemia (AML) occurring at the highest incidence. Report abuse »
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