GenomeWeb: Comprehensive Tumor Characterization for Immuno Oncology, Clinical Trials, and Cancer Research

This GenomeWeb seminar outlines a targeted enrichment technology to improve next-generation sequencing assays for cancer research and clinical applications. Presenters: Richard Chen, MD and Michael James Clark, PhD More Info: NGS is increasingly being used to support cancer clinical trials, translational research, and immuno-oncology, but these NGS cancer solutions often suffer from a number of limitations, including sequence biases, gaps in coverage over cancer genes, narrow cancer footprint, limited validation studies, no support for paired tumor/normal analysis, and lack of RNA integration. Personalis addresses these issues using its Accuracy and Content Enhanced (ACE) technology to improve cancer panel, exome, and transcriptome sequencing. ACE fills in systematic NGS sequencing gaps through the company’s proprietary targeted enrichment approach, which optimizes sample prep and targeted capture in difficult-to-sequence regions such as those with high GC content. The ACE extended cancer panel and ACE cancer exome capture more than 1,600 cancer genes and immuno-oncology genes as well as key non-coding regions. DNA data at high coverage provides sensitive detection of small variants and CNVs at low allele frequencies. RNA data from the same sample, targeted to the same gene set, is used to detect gene fusions, confirm allelic expression, and quantify gene expression. The technical performance of these assays, as well as the company’s CLIA validation studies and tumor/normal support. The speakers also outline the benefits of these assays for immunology studies that require broad neoantigen detection and gene expression to complement DNA variant analysis.