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Updated: Jun 24, 2025

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检测DNA污染在产前样本从整个外测序数据的检测

Sanne P Smeekens1, Raoul Timmermans1, Dineke Westra1

  • 1Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands.

Clinical chemistry
|June 12, 2024
PubMed
概括

在产前样本中的母细胞污染可以通过单独使用整个外基因组测序 (WES) 数据可靠地检测到. 这种生物信息学方法消除了单独污染测试的需要,提高了产前诊断的准确性.

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Sanger Sequencing01:57

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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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