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Updated: May 1, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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扩展DeepTrio用于敏感检测复杂的新突变模式

Fabian Brand1, Jannis Guski1, Peter Krawitz1

  • 1Institut für Genomische Statistik und Bioinformatik (IGSB), University of Bonn, Bonn, Germany.

NAR genomics and bioinformatics
|February 12, 2024
PubMed
概括

这项研究引入了一个深度学习框架,以改善在全基因组测序 (WGS) 数据中检测de novo突变 (DNMs) 和集群DNMs (cDNMs),增强遗传疾病的识别.

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Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

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相关概念视频

Sanger Sequencing01:57

Sanger Sequencing

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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