Posters
« Back
Reference Standards for the Validation of Myeloid Sequencing Assays
EP29332
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
Poster Views: 401
View poster »


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 »
Creative Commons

Related Posters


Genetic Engineering in Male Sterility for Hybrid Variety Development
Abir Hasan Joy

Digiceuticals
Helana Lutfi and Shaban Nuredini

Machine Learning: A New Breakthrough in Medical Diagnosis
Punitha Mahendran, Anis Joelaira, Chai Yong Chia, Fazidatul Aziz, Hasyimah Emran, Siew Fun Lee, Wai Kit Wong, Yee Yan Tang, Li Yang Wong

BAT Molecular Imaging with SPECT-CT, PET-CT, PET-MRI and Fluorescence-PET: A Systematic Review of the Literature Data
Tarik Z Belhocine, MD., Ph.D *, Albert A Driedger, MD., Ph.D **, Jean-Luc Urbain, MD., Ph.D ***

Multiplex miRNA Profiling for Biomarker Discovery and Verification Studies Using the FirePlex® Platform
M. Tackett, B. Heinrich, I. Diwan, G. Tejada, C. Rafferty, E. Atabakhsh, and D. Pregibon