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Updated: Sep 10, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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通过不同的测序技术进行全面的基准测试

Giuseppe Giovanni Nardone1, Valentina Andrioletti2, Aurora Santin1,3

  • 1Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.

Biomedicines
|August 28, 2025
PubMed
概括

选择正确的对齐软件显著影响全基因组测序 (WGS) 中的结构变异 (SV) 检测准确性. 短读 (srWGS) 和长读 (lrWGS) 技术之间的性能不同,突出了对标准化方法的需求.

关键词:
一个基准最好的做法长时间阅读结构变体变种调用全基因组测序

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