Article
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations.
Human genetics - 1 Mar 2023
Chen Qiong, Yang Xuexi, Huang Weilun, Li Ziyan, Xu Mingli, Li Yang, Tao Fangchao, Huang Zhengyi, Yang Xu, Zhao Xuefeng, Jiang Linxiao, Zhou Wanjun
Abstract excerpt
Single-nucleotide variants (SNVs) and copy number variations (CNVs) are the most common genomic variations that cause phenotypic diversity and genetic disorders. MALDI-TOF-MS is a rapid and cost-effective technique for multi-variant genotyping, but it is challenging to efficiently detect CNVs and clustered SNVs, especially to simultaneously detect CNVs and SNVs in one reaction. Herein, a novel strategy termed...
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