M2GEN V1 Exome Capture Kit Product Sheet

Product Sheet - M2GEN ORIEN Avatar® v1 Exome Capture Kit

Whole exome sequencing (WES) and targeted sequencing are widely accepted industry standards as powerful methods to discover potential causative variants in the coding regions (and sometimes in the flanking regions) of genes that drive diseases such as cancer. WES is an attractive option for clinical applications mainly because it can assess areas of the genome that are deemed to be ‘actionable’1-7 either 1) as targets of therapeutic drugs and their response; 2) leading to the development of potential diagnostic tools; or 3) identification of biomarkers for clinical trial stratification and/or choice of treatment. Oncology research leverages WES of patients’ tumors for cancer diagnosis purpose that provides insights into prognoses and personalized treatment options. Thus it is critical to obtain high-quality, high-confidence DNA sequence for calling variants. Calling variants of significance in oncology is not only a function of accurate sequencing (and library preparation), but also dictated by the choice of genes that are both relevant and important in cancers.

The differentiating features and main advantages of the M2GEN ORIEN Avatar version 1 Exome Capture Kit include:

  • Utilization of the Integrated DNA Technologies (IDT) xGen Exome Research Panel version 1 for tumor/normal sequencing
    1. Targets CDS of 19,396 human protein coding genes (39 Mb)
    2. Composed of 429,826 LockDown probes, providing consistent uniformity of coverage
  • Targeted capture of select oncology ‘actionable’ genes for double coverage
  • Targeted capture of select cancer-related gene intronic regions for structural variation detection
  • Targeted capture of select cancer-related promoter and enhancer regions

 

The ORIEN AVATAR version 1 panel design consists of comprehensive single coverage across 19,396 human protein coding genes and double coverage for select oncogenes, tumor suppressor genes, DNA repair genes, and recurrent oncologic gene fusions; as well as, cancer-related regulatory UTRs, promoter and enhancer regions. The double coverage oncology ‘actionable’ genes are summarized as gene/gene element categories in Table I.

Table I. M2GEN ORIEN AVATAR V1 ONCOLOGY ACTIONABLE GENES

Oncology Actionable Genes

References:

  1. “OncoKB: A Precision Oncology Knowledge Base”; doi: 10.1200/PO.17.00011
  2. OncoKB: oncokb.org/
  3. “The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website”. Br J Cancer, 91,355-358
  4. “COSMIC: the Catalogue Of Somatic Mutations In Cancer”; doi: 10.1093/nar/gky1015
  5. COSMIC: sanger.ac.uk/cosmic/fusion
  6. “ChimerDB 3.0: an enhanced database for fusion genes from cancer transcriptome and literature data mining”; doi: 10.1093/nar/gkw1083
  7. ChimerDB 3.0:  https://doi.org/10.1093/nar/gkw1083

Contact us to license our data and solutions or for more information on cohorts of interest and special projects: avatar@M2GEN.com