Open access
Aug 2026
Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders
ABSTRACT Short tandem repeat (STR) expansion is a major genetic mechanism underlying numerous neurogenetic disorders. However, traditional PCR amplification and short‐read next‐generation sequencing‐based methods often fail to detect large‐scale, complex expansions and to capture methylation information. Thus, this stu...
Seungbok Lee, Chan-Ju Jung, Minjeong Kim et al.
· Advancement of science · 0 citations