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A Next-Generation Sequencing-Based Universal Target Panel and Algorithm for One-Stop Detection of Copy Number Alterations and Single-Nucleotide Variations in the HBB Gene Cluster for Rapid Diagnosis of Β-Thalassemia

Debashis Pal,Prosanto Kumar Chowdhury,Kaustav Nayek, Nidhan K. Biswas, Subrata Das,Anupam Basu

Molecular Biology Reports（2025）

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关键词
β-thalassemia,Target NGS,SNVs,CNVs,CNVKit,Depth plot
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