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Pan-tumor

What's new

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Nov 19 / Roche
Genomics Annotation and Interpretation in Somatic Oncology with a Highly Structured Data Model
navify® Mutation Profiler provides an automated cloud-based solution to streamline the process of annotating, interpreting and reporting variants from next-generation sequencing (NGS) somatic oncology test results. Ephesus is an internal web application enabling expert curation for construction of a robust knowledgebase of NGS biomarkers to support the mutation profiler. In this study, we assessed the reporting capability of Ephesus/navify Mutation profiler by querying somatic variants in ~170K real cancer cases from the AACR GENIE® (v16.1) project, and comparing against several public knowledgebases. Ephesus/navify Mutation Profiler outperformed the other knowledgebases in having the highest number of interpreted cases and biomarker profiles.

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Nov 19 / Roche
High Analytical Sensitivity and Specificity of the AVENIO Tumor Tissue CGP Automated Assay for Detecting Genomic Alterations in FFPE Tumor Tissue
In the analytical sensitivity studies, the AVENIO Tumor Tissue CGP Automated Assay demonstrated an LoD of 1.0-3.1% mutant allele frequency (MAF) for short variants (SNVs, InDels) in key genes: EGFR, BRAF, NRAS, and PIK3CA; 15 supporting reads for detecting ALK-fusion, and 10 copies of ERBB2 amplification with a minimum of 13.5% tumor purity. Additionally, the assay showed a platform-wide LoD of 0.9-12.0% MAF for pathogenically known short variants, and 1.3-14.4% MAF for indels in difficult or homopolymer regions. The analytical specificity studies demonstrated a specificity of > 99.99% for short variants, CNAs, and rearrangements, as well as 100% specificity at the sample-level for genomic signatures.

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Nov 19 / Roche
AVENIO Tumor Tissue CGP Automated Assay: End-to-End Solution with High Sample Pass Rate and Precision
AVENIO CGP Automated Assay offers fully automated 24-hour walkaway library preparation with only 1-hour setup time Optimized for Illumina NovaSeq 6000 for reduced sequencing cost and flexible throughput Safe library preparation reagents: REACH-compliant and free of health-hazardous chemicals, ready-for-use packaging Comprehensive panel design covers ~ 2.27 Mb across 335 genes and selected non-coding regions Low overall contamination rate of 0.11% (N=3681 samples) achieved through an optimized automated workflow with only 3.5 hours of hands-on time (from FFPE tissues to results).

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Nov 19 / Roche
Simplifying the AVENIO Tumor Tissue CGP Manual Workflow: Performance of HRD, TMB, and MSI Signature Detection
The AVENIO Tumor Tissue CGP Kit V2 (Research Use Only) was optimized to include fast workflows, higher throughput, and robust bioinformatics algorithms. Homologous Recombination Deficiency (HRDsig) was assessed through the newly developed HRDsig score. Positive Percent Agreement (PPA) was assessed for HRDsig, Microsatellite Instability (MSI), Tumor Mutation Burden (TMB), genomic Loss of Heterozygosity (gLOH), and 4 alteration classes (SNVs, Indels, Rearrangements, and Copy Number Alterations (CNA)). High agreement to FoundationOne® CDx (F1CDx®) was achieved, demonstrating high performance of an easy to use CGP assay.

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Nov 19 / Roche
Comparative Analysis of Variant Reporting and HRD Performance: Evaluating AVENIO Tumor Tissue CGP Automated Assay Against F1CDx Assay and PGDx elio Test
The performance and variants reported in the AVENIO Tumor Tissue CGP Automated Assay were compared to two established CGP tests. High agreement was observed in all genomic alterations, including critical biomarkers, as well as complex genomic signatures across various tissue types, supported by high quality library preparation and sequencing data. The AVENIO Tumor Tissue CGP Automated Assay also demonstrated the strong performance of its pan-solid tumor biomarker HRDsig.

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Nov 19 / Roche
AVENIO Tumor Tissue CGP Automated Assay: End-to-End Solution With High Performance on NextSeq 500/550
The AVENIO Tumor Tissue CGP Automated Assay (For Research Use Only. Not for use in diagnostic procedures.) demonstrates high performance with sequencing outputs from NextSeq 500/550 systems. The assay has a 99.3% total sample pass rate, is guardbanded to a wide range of DNA inputs from 40 ng to 300 ng, shows high reproducibility and precision on FFPE tumor tissue specimens and reference DNA materials, and achieved > 98% PPA with the FoundationOne®CDx test for short variants detection.

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