Validation of the TruSight One Sequencing Panel for Clinical Research

The clinical research application of next-generation sequencing (NGS) requires robust enrichment tests and fast protocols. While whole-exome and genome sequencing have become standard for research projects, the particularities in clinical research necessitate tests with high sensitivity for phenotype-related genes. Moreover, the risk for unsolicited findings should be low. Therefore, gene panel sequencing has been rapidly adopted in clinical research laboratories because phenotype-specific gene lists can be bundled in custom enrichment strategies. Nonetheless, the validation of these assays has amounted to impressive workloads because these gene lists undergo frequent revisions.