Article
Long-Molecule Sequencing: A New Approach for Identification of Clinically Significant DNA Variants in α-Thalassemia and β-Thalassemia Carriers.
The Journal of molecular diagnostics : JMD - 1 Aug 2020
Xu Liangpu, Mao Aiping, Liu Hui, Gui Baoheng, Choy Kwong W, Huang Hailong, Yu Qian, Zhang Xiaojie, Chen Meihuan, Lin Na, Chen Lingji, Han Jin, Wang Yan, Zhang Min, Li Xiaoyu, He Deqin, Lin Yuan, Zhang Jianguang, Cram David S, Cao Hua
Abstract excerpt
Multiple molecular tests are currently needed for accurate carrier testing for thalassemia. Therefore, long-molecule sequencing (LMS) was evaluated as an alternate on the PacBio Sequel platform for genotyping carriers of α-thalassemia or β-thalassemia. Multiplex long PCR was used to generate representative amplicons for the α (HBA1/2) and β (HBB) gene loci. Following LMS, circular consensus sequencing reads were...
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