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Updated: Jun 6, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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通过长读序列和光学基因组映射来完全描述未解决的结构变异

Griet De Clercq1,2, Lies Vantomme1, Barbara Dewaele3

  • 1Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

Scientific reports
|November 25, 2024
PubMed
概括

长读序列 (LRS) 和光学基因组映射 (OGM) 有效地表征了人类疾病中的复杂结构变异 (SV). 这些先进的方法通过解决以前未被发现的遗传重组,提高了诊断产量.

关键词:
染色体形症 (Chromothripsis) 是一种染色体形症.临床基因组学 临床基因组学复杂的基因组重新排列.长读序列的测序方式通过光学基因组映射进行了基因组映射.结构变化的结构变化.

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