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echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline
Bioinformatics ( IF 5.8 ) Pub Date : 2021-09-13 , DOI: 10.1093/bioinformatics/btab658
Brian M Schilder 1, 2, 3, 4, 5 , Jack Humphrey 1, 2, 3, 4, 5 , Towfique Raj 1, 2, 3, 4, 5
Affiliation  

Summary echolocatoR integrates a diverse suite of statistical and functional fine-mapping tools to identify, test enrichment in, and visualize high-confidence causal consensus variants in any phenotype. It requires minimal input from users (a summary statistics file), can be run in a single R function, and provides extensive access to relevant datasets (e.g. reference linkage disequilibrium panels, quantitative trait loci, genome-wide annotations, cell-type-specific epigenomics), thereby enabling rapid, robust and scalable end-to-end fine-mapping investigations. Availability and implementation echolocatoR is an open-source R package available through GitHub under the GNU General Public License (Version 3) license: https://github.com/RajLabMSSM/echolocatoR. Supplementary information Supplementary data are available at Bioinformatics online.

中文翻译:

echolocatoR:自动化的端到端统计和功能基因组精细绘图管道

摘要 echolocatoR 集成了一套多样化的统计和功能精细绘图工具,用于识别、测试任何表型中高置信度因果一致变异的富集和可视化。它需要用户最少的输入(摘要统计文件),可以在单个 R 函数中运行,并提供对相关数据集的广泛访问(例如参考连锁不平衡面板、数量性状位点、全基因组注释、特定细胞类型表观基因组学),从而实现快速、稳健和可扩展的端到端精细图谱研究。可用性和实现 echolocatoR 是一个开源 R 软件包,可根据 GNU 通用公共许可证(版本 3)许可证通过 GitHub 获取:https://github.com/RajLabMSSM/echolocatoR。补充信息 补充数据可在生物信息学在线获取。
更新日期:2021-09-13
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