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Detection of four rare thalassemia variants using Single-molecule realtime sequencing

2 Sept 2022

Abstract excerpt

Conventional methods for the diagnosis of thalassemia include gap polymerase chain reaction (Gap-PCR), reverse membrane hybridization (RDB), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. In this study, we used single molecule real-time technology (SMRT) sequencing and discovered four rare variants that have not been identified by conventional diagnostic methods for thalassemia. We...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 36159974
DOI: 10.3389/fgene.2022.974999

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