Identi cation of rare thalassemia variants using third-generation sequencing

HIGHLIGHTS

• who: . and colleagues from the McGill University, Canada have published the Article: Identi cation of rare thalassemia variants using third-generation sequencing, in the Journal: (JOURNAL)
• what: Future experiments can be conducted to compare CATSA with other frequently used methods such as multiplex ligation-dependent probe amplification (MLPA) and real-time PCR-based multicolor melting curve analysis (MMCA). In this study, CATSA was conducted for the subjects with no thalassemia variants identified by routine PCR, Sanger sequencing, and specially designed GAP-PCR.

SUMMARY

Thalassemia is the most widely distributed monogenic autosomal . . .

 



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