Abstract 5048: MyInformatics®: Invivoscribe’s end-to-end NGS analysis software system for streamlined variant calling and reporting

Abstract Introduction: MyInformatics® is an NGS software system that streamlines the entire sample processing workflow for Invivoscribe’s CAP/CLIA-certified MyAML® and MyMRD® Assays—from data creation and entry into a laboratory information system (LIS), through comprehensive and standardized bioinformatics analyses, to annotated variant reports. The system automates processes including quality control and sample tracking through integration with LIS and web display components, enhancing data transparency, and decreasing turnaround times. These seamlessly interlinked processes also eliminate many sources of potential human error. Methods: Following specimen accessioning and sequencing in the lab, a MyInformatics® gene-panel analysis begins when an operator executes the main NextFlow script, which orchestrates the entire workflow by calling multiple Docker containers in a single workflow. Each individual Docker container includes a bioinformatics system/tool component. Each component is responsible for a specific bioinformatics task such as variant calling, artifact identification, sample QC, or variant annotation. Different components can be used by the bioinformatics workflow via a configuration file, allowing for flexible reuse of software. Following the bioinformatic analyses, the MyInformatics® system communicates with the LIS to perform sample QC based on each panel’s established quality thresholds. The system also communicates with Invivoscribe’s MyInformatics Annotation Portal (MAP®), a web interface for reporting clinically significant variants. Invivoscribe’s Clinical Genomics scientists use MAP® to generate final sample reports. Results: Invivoscribe developed the MyInformatics system with a modular software architecture based on containerization and automated workflow management for bioinformatics components. This reduces code complexity, allows for efficient integration of new versions of tools, and decreases manual overhead and operator errors. The system seamlessly integrates with other software components developed by Invivoscribe, such as the LIS and a web-based annotation tool and can handle multiple assays with a single user-specified parameter. Conclusions: MyInformatics® connects all key components of a modern NGS assay analysis workflow, from the sequencing instrument to the annotated sample reports. The containerization makes deploying the software in any computational infrastructure easier, and the automation through connecting multiple software components dramatically reduces overall turnaround times for sample reporting while improving data transparency and limiting the potential for errors. MyInformatics® also facilitates the standardization of assay workflows across our global LabPMM laboratories, promoting consistency in results. Citation Format: Jillian Burke, Joshua Wemmer, Julian D’Angelo, Javier Velaquez-Muriel, Travis Johnson, Paulina Sanchez. MyInformatics®: Invivoscribe’s end-to-end NGS analysis software system for streamlined variant calling and reporting [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 5048.