Cas9-enriched nanopore sequencing enables comprehensive and multiplexed detection of repeat expansions
Seungbok Lee, Chanju Jung, Min-Jeong Kim, Na Rae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon
The paper introduces a nanopore sequencing method with Cas9 targeting and an analysis algorithm to detect STR expansions, identifying pathogenic repeats in cerebellar ataxia patients.
bioRxiv · Nov 24, 2025 · PreprintBioengineering