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Updated: Jul 30, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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评估开源罕见变异分析管道的功能和可用性

Cristian Riccio1,2, Max L Jansen1,2, Felix Thalén1,2

  • 1Cardio-CARE, Medizincampus Davos, Herman-Burchard-Str. 12, 7265 Davos Wolfgang, Switzerland.

Briefings in bioinformatics
|February 5, 2025
PubMed
概括

分析罕见的遗传变异是复杂的. 本次审查确定了17个管道,并建议使用STAARpipeline,REGENIE,Ravages和OrdinalGWAS等特定工具进行不同的复杂特征遗传分析.

关键词:
全基因组关联研究研究.管道管道管道管道管道管道管道罕见变异关联研究研究.软件 软件 软件 软件 软件系统性审查 系统性审查进行全基因组测序.

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