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Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing.

Gene - 30 May 2022

Jiang Fan, Mao Ai-Ping, Liu Yin-Yin, Liu Feng-Zhi, Li Yan-Lin, Li Jian, Zhou Jian-Ying, Tang Xue-Wei, Ju Ai-Ping, Li Fa-Tao, Wan Jun-Hui, Zuo Lian-Dong, Li Dong-Zhi

Abstract excerpt

Gap- polymerase chain reaction (PCR), reverse dot-blot assay (RDB), real-time PCR based multicolor melting curve analysis (MMCA assay), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing are conventional methods to diagnose thalassemia but all of them have limitations. In this study, we applied single-molecule real-time (SMRT) sequencing following multiplex long-range PCR to uncover...

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PMID: 35306112
DOI: 10.1016/j.gene.2022.146438

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