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Updated: Jun 1, 2025

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SV-JIM,详细的双向结构变体调用使用长读和基因组组件

Clarence Todd1, Lingling Jin1, Ian McQuillan1

  • 1Department of Computer Science, University of Saskatchewan, Saskatoon, SK, Canada.

Methods (San Diego, Calif.)
|January 18, 2025
PubMed
概括

本研究介绍了SV-JIM,这是一个用于使用基因组组件和长读量评估结构变异 (SV) 调用者的管道. 通过汇总来自多个呼叫者的结果,SV-JIM提高了SV检测一致性和数据准确性.

关键词:
进行比较的基因组学.遗传变异是一种遗传变异.结构变体调用 结构变体调用

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