توالی یابی هدفمند

Targeted Region Sequencing (TS) stands as a robust and versatile tool for the comprehensive profiling of clinical samples in the domains of cancer research and clinical trials. The substantial sequencing depth employed in TS, exemplified by ultra-deep sequencing at a magnitude of 10,000x and beyond, renders it particularly potent for the profiling of clinical samples, including those derived from formalin-fixed paraffin-embedded (FFPE) tissues and circulating tumor DNA (ctDNA), where DNA quality and/or tumor content may be limited.

The heightened depth of coverage characteristic of TS facilitates the identification of mutations existing in minute fractions of malignant cells, known as sub-clonal mutations. In the context of detecting minimal residual disease, TS achieves variant allele frequency (VAF) detection as low as 0.1–0.2%. These attributes collectively position TS as superior to non-Next Generation Sequencing (NGS) based techniques, such as Sanger sequencing and digital polymerase chain reaction (PCR), as well as Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES), particularly in the context of large-scale genomic testing and clinical trial applications (Bewicke-Copley, 2019).

Commercially accessible targeted gene panels, typically tailored for research or clinical applications, are specifically crafted to amplify genomic regions that are recognized as pertinent within the context of cancer or specific cancer subtypes. The utilization of these panels expedites the sequencing process substantially, given that they have undergone prior design, rigorous testing, and validation, as elucidated by Bewicke-Copley (2019).