Article

Cas9-enriched nanopore sequencing enables comprehensive and multiplexed detection of repeat expansions

2025-11-25

Abstract excerpt

Short tandem repeat (STR) expansion is a major genetic mechanism underlying numerous neurogenetic disorders. However, traditional PCR amplification and short-read next-generation sequencing (NGS)-based methods often fail to detect complex and large expansions including methylation information. Here, we modified an amplification-free nanopore Cas9-targeted sequencing (nCATS) platform and developed a dedicated analy...

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Literature Corpus work: aa6a4770-4df5-5d6b-b659-a32ef8f36bce
DOI: 10.1101/2025.11.24.690106

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