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Genomics Annotation and Interpretation in Somatic Oncology with a Highly Structured Data Model

Authors Jian Li

Published date19 November, 2024

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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