AGTC Genomics

Custom Targeted Sequencing

Our Genomic Services is able to draw on the vast knowledge of our research community to help provide customized genomic solutions. Whether you need assistance to design and develop your custom content into a fully validated assay performed in our laboratory, or you need the flexibility of custom sequencing runs, with non-standard parameters – read lengths, primers, or index sequences, we have you covered.

Overview

Streamlined parallel histopathology and NGS workflows to detect clinically relevant DNA and RNA variants in various solid tumor indications. Our Illumina TruSight™ TSO500 Solid Tumor NGS service provides high sensitivity detection of genomic variants across 523 DNA genes and 55 RNA Fusion events in most major cancer indications and sample types, including microsatellite instability (MSI) and tumor mutational burden (TMB) immuno-oncology biomarkers.

Key Features and Benefits

  • Discovery and verification of the presence of genomic biomarker targets and signatures in solid tumors
  • Retrospective identification of potential oncology clinical trial patient responders versus non-responders based on genomic profiles
  • Determine TMB and MSI biomarker signatures that facilitate evaluation of potential immunotherapy response
  • Combine the matching TSO500 Solid Tumor and TSO500 ctDNA applications to develop and validate non-invasive liquid biopsy assays from matched-patient Plasma and FFPE samples
  • Streamline interpretation of clinically relevant genomic variants with an annotated TSO500 PDF report from PierianDx

What’s Included

  • Sample Receipt and Initial QC
  • Library Construction and QC
  • Sequencing and Data Delivery
  • Bioinformatics Analysis
  • PDF report from PierianDx™

Input Requirements

  • DNA Input: 80 – 120 ng, 500 ng max
  • RNA Input: 80 – 100 ng

Data Deliverable

  • DNA Results
    • Small variants VCF
    • Annotated merged variants JSON
      CNV VCF
    • TMB trace TSV
    • Combined RNA variants TSV (for DNA-only samples only)
  • RNA Results
    • Fusions CSV
    • Splice Variants VCF
    • Annotates splice variants JSON
    • Combined RNA variants TSV (for RNA-only samples only)
  • Combined DNA + RNA results
    • Combined DNA + RNA variants TSV (for paired DNA+RNA samples only)
  • QC and metrics files
    • Metrics report TSV