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Updated: Jun 23, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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对DNA损伤和罕见突变的全基因组分析的方法和应用

Gerd P Pfeifer1, Seung-Gi Jin2

  • 1Department of Epigenetics, Van Andel Institute, Grand Rapids, MI, USA. gerd.pfeifer@vai.org.

Nature reviews. Genetics
|June 25, 2024
PubMed
概括

检测DNA损伤和突变对于理解人类疾病至关重要. 新的全基因组方法提供单核酸分辨率来识别这些变化,即使在低水平.

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