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Updated: Feb 3, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

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骨髓纤维化中异构性拷贝中性损失:与光学基因组映射和单核酸多态阵列并行评估

Álvaro Díaz-González1, Elvira Mora2, Marta Garrote3

  • 1Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.

The Journal of molecular diagnostics : JMD
|February 1, 2026
PubMed
概括

光学基因组映射 (OGM) 能够有效地检测髓纤维化 (MF) 中的异构性 (CN-LOH) 的副本中性损失. 使用VIA软件的分析显示了与SNP数组的高度一致,为MF进展提供了可靠的诊断工具.

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