GenomOncology, Cleveland, has released a new version of its GenomOncology (GO) Pathology Workbench solution, which is optimized for larger panels (such as Illumina’s TSO500), higher sample throughput, and the interpretation of copy numbers and structural variants by next generation sequencing.

GenomOncology’s Pathology Workbench is a customizable, end-to-end solution that streamlines quality control review and clinical interpretation for NGS tests. The tool is designed to annotate detected variants, identify matched potential clinical trials and therapies, and result in a customizable report that can be easily integrated into other systems. The GO Pathology Workbench encompasses multiple annotation sets as well as curated content to support sample analysis.

The latest release of GenomOncology’s Pathology Workbench enables the parallel processing of samples through the annotation pipeline, improving sample annotation time by 80%. For example, one TSO500 NovaSeq run of 150 samples can be fully processed in just 3 hours. Acknowledging the lack of standardization in how non-SNV calls are represented by NGS pipelines, this new release also supports custom parsing of copy number alterations, fusions, structural variants, MSI, and TMB results from any types of source files, as well as enhanced user interfaces for quality control review and interpretation for these types of biomarkers. 

This new version also includes several additional annotation datasets, such as gnomAD, MutationTaster, PolyPhen, SIFT, MSK’s, and COSMIC’s Cancer Gene Census, which feed into an improved automated variant classification algorithm.

“The updates to GenomOncology’s Pathology Workbench are designed to help labs and institutions working to scale their test volume and panel sizes, as well as introduce CNV and structural variant results by NGS. With the GO Pathology Workbench, users are provided with a workflow and clinical interpretation knowledge base that streamlines the process, quickly turning around reports that provide relevant clinical trial and therapy recommendations for patients,” says Matt Stachowiak, PhD, director of product management.

For more information, visit GenomOncology