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Updated: Jan 15, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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希少ベータサラセミアバリアントの正確な円形コンセンサス長鎖シーケンシングによる検出

Xiaoqiang Zhou1, Yue Chen2,3, Shufen Chen1

  • 1Prenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.

Human mutation
|January 14, 2026
PubMed
まとめ

正確な円形コンセンサス長鎖シーケンシングは、希少ベータサラセミア遺伝子バリアントを効果的に検出し、追加の16例を特定します。この新しい方法は、ベータサラセミアスクリーニングにおけるキャリア検出率の向上に有望です。

キーワード:
正確な円形コンセンサス長鎖シーケンシング診断ベータサラセミアバリアント

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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