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Evaluate the efficacy of circular consensus long-read sequencing in detecting rare thalassemia variants.

January 14, 2026Human MutationOpen Access

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long‐Read Sequencing

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Research demonstrates improved genetic variant detection in thalassemia carriers, indicating molecular analysis benefits.

Evaluate the efficacy of circular consensus long-read sequencing in detecting rare thalassemia variants.
Screen suspected rare thalassemia carriers via hemoglobin analysis and molecular analysis.
Utilize accurate circular consensus long-read sequencing for variant detection.
Identified 16 additional cases of rare thalassemia variants using sequencing.
Detected 12 point variants and 4 deletion variants.
Promising prospect for improving carrier detection rates.

Zhou et al. (2026) studied this question.

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