Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders
An amplification‐free nanopore Cas9‐targeted sequencing (nCATS) platform is modified to achieve uniform coverage across 56 currently defined STR loci using a single test with genomic DNA from patient‐derived blood cells and to develop a dedicated analysis algorithm, STRiker, capable of identifying internal motif contex...