Performance Evaluation of PacBio PureTarget for Multiple Short Tandem Repeat Expansion Detection

Background: Excessive repeat sequence expansion in the human genome causes neurodegenerative diseases. Conventional tandem repeat expansion detection methods often fail to amplify GC-rich repeat regions and cannot help in simultaneously detecting multiple regions. To overcome those limitations, we tested the PacBio PureTarget repeat expansion panel, a new target enrichment test without PCR amplification, and compared its performance with that of conventional repeat expansion detection methods, using clinical and reference samples. Methods: repeat expansions via repeat-primed [RP] PCR). Data were analyzed using the tandem repeat genotyping tool. Results: , demonstrating its applicability. Conclusions: The PacBio PureTarget repeat expansion panel, which uses targeted enrichment based on clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 and long-read sequencing, is a promising approach for repeat expansion detection, overcoming the limitations of conventional methods. This approach enabled parallel analysis of multiple candidate genes implicated in neurodegenerative diseases with overlapping clinical features, supporting its potential integration into future clinical diagnostic workflows.