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Updated: Feb 15, 2026

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URMD-Seq:一种高通量方法,用于可扩展地检测人类线粒体基因组中超罕见的突变

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
概括

一种新方法,超罕见突变检测测序 (URMD-Seq),可以准确检测罕见的线粒体DNA (mtDNA) 突变. 这种高通量测序方法使mtDNA变异在各种组织中的可扩展分析成为可能,从而推进了线粒体遗传学研究.

关键词:
超罕见的突变 超罕见的突变线粒体DNA (mtDNA) 是指线粒体的DNA.下一代测序 (NGS) 是指下一代的测序.独特的分子标识符 (UMI)

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