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Updated: Feb 15, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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URMD-Seq:ヒトミトコンドリアゲノムの超希少変異のスケーラブル検出のための高スループット方法

Zeshuo E S Li1, Rachel Dunn1, Loïc C Caloren1

  • 1Department of Pathology & Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.

Mitochondrion
|February 13, 2026
PubMed
まとめ

新しい方法である超希少変異検出配列 (URMD-Seq) は,希少なミトコンドリアDNA (mtDNA) 変異を正確に検出します. この高通量配列化アプローチは,さまざまな組織におけるmtDNA変異のスケーラブルな分析を可能にし,ミトコンドリア遺伝学の研究を進めています.

キーワード:
超希少変異 超希少変異ミトコンドリアDNA (mtDNA) とは次世代のシーケンシング (NGS)ユニークな分子識別子 (UMI)

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