GBA in Parkinson's disease: variant detection and pathogenicity scoring matters

In this study, we sequenced the full-length GBA gene on the Oxford Nanopore GridION as an 8.9 kb amplicon and determined the frequency of GBA variants in Norwegian patients with PD and healthy controls.本研究中，我们将全长葡萄糖脑苷脂酶β（GBA）基因构建为8.9千碱基对（kb）扩增子，依托牛津纳米孔GridION（Oxford Nanopore GridION）测序仪完成测序，并明确了挪威籍帕金森病（Parkinson's disease, PD）患者与健康对照群体中GBA变异的发生频率。