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Updated: Jun 20, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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多个马赛克调用器的应用改善了从外体测序数据的后异位突变检测

Nandini G Sandran1, Dani L Fornarino1, Mark A Corbett1

  • 1Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia; Australian Collaborative Cerebral Palsy Research Group, Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.

Genetics in medicine : official journal of the American College of Medical Genetics
|July 23, 2024
PubMed
概括

新的管道准确地检测父母和孩子的后异位变异 (PZVs),改善单一性疾病的遗传诊断和复发风险估计. 这项研究增强了对家庭遗传变异的理解.

关键词:
一个新的变种De novo变种.索体的马赛克主义马赛主义 (Mosaicism) 是一个教派.突变检测检测 突变检测检测异位后的变异性变化.

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

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Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

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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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