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Updated: Jul 1, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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在没有匹配的正常样本的情况下检测体质突变,使用长读数

Jared T Simpson1,2,3

  • 1Ontario Institute for Cancer Research, Toronto, Canada.

bioRxiv : the preprint server for biology
|March 11, 2024
PubMed
概括

这项研究引入了一种使用长读序列的新方法,仅从瘤样本中识别癌症突变. 这种方法提高了关键癌症生物标志物的准确性,例如瘤突变负担.

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相关概念视频

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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