Use of Highly Multiplexed Reference Materials to Facilitate Validation of a Clinical NGS Tumor Fusion RNA Assay

Next-generation sequencing (NGS) assays for detection of tumor RNA fusions must undergo rigorous validation before clinical implementation. Validations include assessment of the assay’s accuracy, precision, reproducibility, and limits of detection (LOD) or reportable range.

Obtaining samples with all needed variants is difficult and time-consuming. When found, they are often in limited quantities such that repeated testing for precision and reproducibility studies is not possible. Sample heterogeneity or lack of characterization further complicates interpretation of results. This study demonstrates how highly characterized, uniformly manufactured reference materials can facilitate clinical NGS assay validation.

Download this poster to see how the use of highly consistent, manufactured materials facilitated linearity/limit of detection, precision, and reproducibility evaluation in this study.