long read sequencing

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
Sheng Zeng, Mei-yun Zhang, Xue-jing Wang, Zheng-mao Hu, Jin-chen Li, Nan Li, Jun-ling Wang, Fan Liang, Qi Yang, Qian Liu, Li Fang, Jun-wei Hao, Fu-dong Shi, Xue-bing Ding, Jun-fang Teng, Xiao-meng Yin, Hong Jiang, Wei-ping Liao, Jing-yu Liu, Kai Wang, Kun Xia, Bei-sha Tang

Journal of Medical Genetics Apr 2019, 56 (4) 265-270; DOI: 10.1136/jmedgenet-2018-105484

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long read sequencing