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Reference Standards for the Validation of Myeloid Sequencing Assays
EP29332
Reference Standards for the Validation of Myeloid Sequencing Assays
Submitted on 24 Oct 2018

M. Wang, H. Child, J. Stombaugh, M. Jakubowski, C. Peck, K. Cook, Y. Cheng, Z. Tu, J. Wickenden
Horizon Discovery Group
This poster was presented at American Society of Human Genetics Annual Meeting 2018
Poster Views: 151
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Poster 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.Report abuse »
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