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

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.