Clinical Perspective on Use of Long-Read Sequencing in Prenatal Diagnosis of Thalassemia

Abstract excerpt

This is an editorial focusing on the clinical perspective of a long-read sequencing method in the prenatal diagnosis of alpha- and beta-thalassemia, including a comparison between this method and standard PCR-based methods. Though incremental, the increased sensitivity and specificity using long-read sequencing is an important advantage of this methodology in the prenatal diagnostic arena due to false positive or...

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