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Updated: May 27, 2025

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PGSXplorer:一个集成的下一流管道,用于全面的质量控制和多基因分数模型开发

Tutku Yaraş^1,2, Yavuz Oktay^1,2,3, Gökhan Karakülah^1,2

¹İzmir Biomedicine and Genome Center, İzmir, Turkey.

|February 17, 2025

概括

PGSXplorer是一个新的管道,用于从基因组数据中构建多基因分数 (PGS). 该工具标准化了该过程,提高了PGS在精密医学研究中的准确性和通用性.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.
计算生物学计算生物学

背景情况:

下一代测序和基因组数据共享已经推进了个性化医学.
全基因组关联研究 (GWAS) 对于理解复杂疾病和开发多基因分数 (PGS) 至关重要.
有限的标准化管道阻碍了PGS的广泛采用和通用性.

研究的目的:

引入PGSXplorer,这是一个全面的Nextflow DSL2管道,用于自动化的PGS开发.
为满足对标准化,可扩展和可重复的PGS施工的需求.
通过多来源数据集成,提高PGS的通用性.

主要方法:

使用Docker封装开发了PGSXplorer作为一个Nextflow DSL2管道.
集成质量控制,分阶段,归算和PGS模型构建功能.
整合了多个PGS开发工具 (PLINK,PRSice-2,LD-Pred2,Lassosum2,MegaPRS,SBayesR-C,PRS-CSx,MUSSEL) 在内.

主要成果:

PGSXplorer自动化了PGS开发的端到端过程.
该管道证明了单个和多个人口分析的合成数据集的可扩展性和有效性.
多种工具的整合提高了开发的PGS的通用性.

结论:

PGSXplorer为PGS开发提供了一个标准化和自动化的解决方案.
该开源工具促进了精准医学和遗传研究的进步.
有教程的可用性促进了更广泛的采用和可重复的研究.

关键词:

在GWAS中,GWAS就是GWAS.下一个流程下一个流程提供PGS服务.在PRS中使用PRS.管道管道管道管道管道多基因风险评分多基因风险评分.多基因分数多基因分数质量控制质量控制

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