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Clinical validation of the Ion Torrent Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer as a stand-alone assay for single-nucleotide variants, insertions/deletions, and fusion genes: Challenges, performance, and perspectives.

Kritika KrishnamurthyJiani ChaiXiaowei LiuYanhua WangRizwan NaeemD Yitzchak Goldstein
Published in: American journal of clinical pathology (2024)
This extensive clinical validation of the Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer with its built-in bioinformatics pipeline and Ion Torrent Oncomine Reporter shows robust performance in terms of variant calling accuracy, precision, and reproducibility, with the advantage of a rapid turnaround time of 2 days. The greatest limitation is the inability to detect variants in long homopolymer regions.
Keyphrases
  • high throughput
  • copy number
  • bone marrow
  • dendritic cells
  • acute myeloid leukemia
  • genome wide
  • crispr cas
  • immune response
  • gene expression
  • data analysis
  • clinical evaluation