工具的功能包括全基因组功能注释、常见变异和罕见变异关联分析、条件分析和分析结果的汇总和可视化。STAARpipeline还引入了一系列新方法,用于选择非编码基因组中罕见变异的分析单位。我们进一步通过STAAR方法整合了多组学功能注释数据,从而提升了罕见变异关联分析的功效。本研究提供了一个高效且高性能的工具,用于大规模全基因...
STAARpipeline: an all-in-one rare-variant tool for biobank-scale whole-genome sequencing dataDNA sequencingGenetics researchSequence annotationSoftwareDetecting rare-variant associations in the noncoding genome is challenging. We present a scalable, flexible and streamlined rare-variant association analysis ...
An R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline - xihaoli/STAARpipeline
The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary - xihaoli/STAARpipeline-Tutorial
动态窗口分析在非编码基因组中检测到43个非重叠的显着关联,比滑动窗口分析多19.4%。这些结果表明,STAARpipeline是一个强大、资源高效且稳健的非编码罕见变异关联分析工具,应用于大规模全基因组数据和生物库样本库数据。 林希虹教授和印第安纳大学医学院助理教授李子林为本文的共同通讯作者,李子林助理教授与林希虹教授课题...
An R package for summarizing and visualizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies generated by STAARpipeline - xihaoli/STAARpipelineSummary