Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewed
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay
Zhongmin Xia, Qiuxiao Deng, Ping Hu…·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.
3 citations