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Updated: Jun 23, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

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适应性纳米孔测序以确定BRCA1外基重复的致病性

Mathilde Filser1,2, Mathias Schwartz3,2, Kevin Merchadou2,4

  • 1Genetics Department, Institut Curie, Paris, France mathilde.filser@curie.fr.

Journal of medical genetics
|June 1, 2023
PubMed
概括

长期阅读的纳米孔测序准确地确定了一种致病性BRCA1基因重复,一种难以用标准方法检测的结构变异. 这种快速诊断方法有助于评估遗传性癌症倾向综合征.

关键词:
基因重新排列 基因重新排列遗传咨询 遗传咨询对疾病的遗传倾向分子诊断技术 分子诊断技术纳米孔序列测序 纳米孔序列测序

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Base Excision Repair

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The first step of...
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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.
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