Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay
Zhongmin Xia, Qiuxiao Deng, Ping Hu, Chunliu Gao, Yu Jiang, Yulin Zhou, Qiwei Guo
This paper develops a nanopore sequencing assay for FXS carrier screening, showing it can detect CGG repeat variations in reference and clinical samples with high accuracy.
Journal of Molecular Diagnostics · Apr 23, 2025Peer-reviewedGenetic & Genomic Medicine