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Updated: Jul 15, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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通过将定制探测池与商业向面板相结合,扩大基因组分析的目标区域的方法

Yoji Kukita1, Kei Kunimasa2, Takashi Akazawa3

  • 1Laboratory of Genomic Pathology, Research Center, Osaka International Cancer Institute, Osaka, Japan.

The journal of applied laboratory medicine
|September 25, 2023
PubMed
概括

本研究提出了一种具有成本效益的方法,通过将定制探针与商业面板相结合,扩大基因组分析目标. 这种方法增强了瘤基因分析,为昂贵的全外因组测序提供了切实可行的替代方案.

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Labeling DNA Probes03:31

Labeling DNA Probes

DNA probes are fragments of DNA labeled with a reporter tag to enable their detection or purification. The resulting labeled DNA probes can then hybridize to target nucleic acid sequences through complementary base-pairing, and may be used to recover or identify these regions.
Radioisotopes, fluorophores, or small molecule binding partners like biotin or digoxigenin, are the most widely used reporter tags for labeling DNA probes. These labels can be attached to the probe DNA molecule via...
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