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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
Development of a PETE strategy for assessment of mutations associated with resistance to anti-CD20 therapy
In recent years, anti-CD20 therapies such as bispecific monoclonal antibodies (BsMAbs) have emerged as a potent new class of therapeutics for NHL, however a subset of patients still experience relapsed or refractory disease1. As mutations in MS4A1 (CD20 gene) are one mechanism of CD20 downregulation observed with anti-CD20 therapies, patients undergoing treatment could benefit from longitudinal screening via liquid biopsy to identify emerging mechanisms of resistance2-5. Here, we describe the development of a single gene Primer Extension Target Enrichment (PETE) strategy for deep sequencing of MS4A1.

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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.
08:00 AM
Duration 1hr Vancouver, Canada
Simplifying the AVENIO Tumor Tissue CGP Manual Workflow: Performance of HRD, TMB, and MSI Signature Detection
Nan Zhang

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Duration 1hr Vancouver, Canada
AVENIO Tumor Tissue CGP Automated Assay: End-to-End Solution with High Sample Pass Rate and Precision
Yuhang Li

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Duration 1hr Vancouver, Canada
Comparative Analysis of Variant Reporting and HRD Performance: Evaluating AVENIO Tumor Tissue CGP Automated Assay Against F1CDx Assay and PGDx elio Test
Serena Li

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Duration 1hr Vancouver, Canada
High Analytical Sensitivity and Specificity of the AVENIO Tumor Tissue CGP Automated Assay for Detecting Genomic Alterations in FFPE Tumor Tissue
Killeen Kirkconnell

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Duration 1hr Vancouver, Canada
AVENIO Tumor Tissue CGP Automated Assay: End-to-End Solution With High Performance on NextSeq 500/550
James Blau

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Duration 1hr Vancouver, Canada
An ultrasensitive kappa and lambda (K/L) dual in situ hybridization (ISH) mRNA assay for light chain restriction offers pre-analytical flexibility
Bowdoin Su

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Duration 1hr Vancouver, Canada
Development of a PETE strategy for assessment of mutations associated with resistance to anti-CD20 therapy
Tyler Landrith

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05:15 PM
Duration 1hr Vancouver, Canada
Genomics Annotation and Interpretation in Somatic Oncology with a Highly Structured Data Model
Jian Li

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