• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Postgwas:R 中的高级 GWAS 解读。

Postgwas: advanced GWAS interpretation in R.

机构信息

Leibniz-Institute for Arteriosclerosis Research at the University Muenster, Muenster, Germany.

出版信息

PLoS One. 2013 Aug 19;8(8):e71775. doi: 10.1371/journal.pone.0071775. eCollection 2013.

DOI:10.1371/journal.pone.0071775
PMID:23977141
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3747239/
Abstract

We present a comprehensive toolkit for post-processing, visualization and advanced analysis of GWAS results. In the spirit of comparable tools for gene-expression analysis, we attempt to unify and simplify several procedures that are essential for the interpretation of GWAS results. This includes the generation of advanced Manhattan and regional association plots including rare variant display as well as novel interaction network analysis tools for the investigation of systems-biology aspects. Our package supports virtually all model organisms and represents the first cohesive implementation of such tools for the popular language R. Previous software of that range is dispersed over a wide range of platforms and mostly not adaptable for custom work pipelines. We demonstrate the utility of this package by providing an example workflow on a publicly available dataset.

摘要

我们提供了一个全面的工具包,用于 GWAS 结果的后处理、可视化和高级分析。本着与基因表达分析工具可比的精神,我们试图统一和简化解释 GWAS 结果所必需的几个步骤。这包括生成高级曼哈顿和区域关联图,包括罕见变异显示,以及用于研究系统生物学方面的新的交互网络分析工具。我们的软件包几乎支持所有的模式生物,并且是首次在流行的 R 语言中实现此类工具的统一实现。此类范围的先前软件分散在许多平台上,并且大多不能适应定制工作流程。我们通过在公开可用的数据集上提供示例工作流程来证明该软件包的实用性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c02/3747239/adb273427e93/pone.0071775.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c02/3747239/74b99a59a7e1/pone.0071775.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c02/3747239/eae650ad361d/pone.0071775.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c02/3747239/adb273427e93/pone.0071775.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c02/3747239/74b99a59a7e1/pone.0071775.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c02/3747239/eae650ad361d/pone.0071775.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c02/3747239/adb273427e93/pone.0071775.g003.jpg

相似文献

1
Postgwas: advanced GWAS interpretation in R.Postgwas:R 中的高级 GWAS 解读。
PLoS One. 2013 Aug 19;8(8):e71775. doi: 10.1371/journal.pone.0071775. eCollection 2013.
2
topr: an R package for viewing and annotating genetic association results.topr:一个用于查看和注释遗传关联结果的 R 包。
BMC Bioinformatics. 2023 Jun 28;24(1):268. doi: 10.1186/s12859-023-05301-4.
3
Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers.曼哈顿++:用多个注释层展示全基因组关联汇总统计信息。
BMC Bioinformatics. 2019 Nov 27;20(1):610. doi: 10.1186/s12859-019-3201-y.
4
High-throughput analysis of epistasis in genome-wide association studies with BiForce.利用 BiForce 进行全基因组关联研究中的上位性的高通量分析。
Bioinformatics. 2012 Aug 1;28(15):1957-64. doi: 10.1093/bioinformatics/bts304. Epub 2012 May 21.
5
snpGeneSets: An R Package for Genome-Wide Study Annotation.snp基因集:一个用于全基因组研究注释的R软件包。
G3 (Bethesda). 2016 Dec 7;6(12):4087-4095. doi: 10.1534/g3.116.034694.
6
WISH-R- a fast and efficient tool for construction of epistatic networks for complex traits and diseases.WISH-R——一种用于构建复杂性状和疾病上位网络的快速有效的工具。
BMC Bioinformatics. 2018 Jul 31;19(1):277. doi: 10.1186/s12859-018-2291-2.
7
Encore: Genetic Association Interaction Network centrality pipeline and application to SLE exome data.再分析:遗传关联相互作用网络中心性分析管道及其在系统性红斑狼疮外显子组数据中的应用。
Genet Epidemiol. 2013 Sep;37(6):614-21. doi: 10.1002/gepi.21739. Epub 2013 Jun 5.
8
HAPPI GWAS: Holistic Analysis with Pre- and Post-Integration GWAS.HAPPI GWAS:整合前和整合后全基因组关联分析的整体分析。
Bioinformatics. 2020 Nov 1;36(17):4655-4657. doi: 10.1093/bioinformatics/btaa589.
9
Protocol for Epistasis Detection with Machine Learning Using GenEpi Package.基于 GenEpi 包的机器学习连锁分析检测方案
Methods Mol Biol. 2021;2212:291-305. doi: 10.1007/978-1-0716-0947-7_18.
10
Development of GMDR-GPU for gene-gene interaction analysis and its application to WTCCC GWAS data for type 2 diabetes.开发 GMDR-GPU 进行基因-基因相互作用分析及其在 WTCCC GWAS 数据中 2 型糖尿病的应用。
PLoS One. 2013 Apr 23;8(4):e61943. doi: 10.1371/journal.pone.0061943. Print 2013.

引用本文的文献

1
Effect of Fatty Acids on Backfat Quality in Beijing Black Pigs.脂肪酸对北京黑猪背膘品质的影响。
Foods. 2024 Dec 5;13(23):3927. doi: 10.3390/foods13233927.
2
The Progression in Developing Genomic Resources for Crop Improvement.用于作物改良的基因组资源开发进展
Life (Basel). 2023 Jul 31;13(8):1668. doi: 10.3390/life13081668.
3
Role of germline variants in the metastasis of breast carcinomas.胚系变异在乳腺癌转移中的作用。

本文引用的文献

1
A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.全基因组关联研究确定了 ADAMTS 基因在小儿中风易感性中的基因网络。
Blood. 2012 Dec 20;120(26):5231-6. doi: 10.1182/blood-2012-07-442038. Epub 2012 Sep 18.
2
Presence of multiple independent effects in risk loci of common complex human diseases.常见复杂人类疾病风险位点中多个独立效应的存在。
Am J Hum Genet. 2012 Jul 13;91(1):185-92. doi: 10.1016/j.ajhg.2012.05.020. Epub 2012 Jul 5.
3
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.
Oncotarget. 2022 Jun 30;13:843-862. doi: 10.18632/oncotarget.28250. eCollection 2022.
4
Discovering of Genomic Variations Associated to Growth Traits by GWAS in Braunvieh Cattle.GWAS 发现与布劳恩维勒牛生长性状相关的基因组变异。
Genes (Basel). 2021 Oct 22;12(11):1666. doi: 10.3390/genes12111666.
5
ADAMTS12, a new candidate gene for pediatric stroke.ADAMTS12,小儿脑卒中的一个新候选基因。
PLoS One. 2020 Aug 20;15(8):e0237928. doi: 10.1371/journal.pone.0237928. eCollection 2020.
6
Genetic Contribution to Variation in Blood Calcium, Phosphorus, and Alkaline Phosphatase Activity in Pigs.猪血液中钙、磷和碱性磷酸酶活性变异的遗传贡献
Front Genet. 2019 Jun 28;10:590. doi: 10.3389/fgene.2019.00590. eCollection 2019.
7
Targeted resequencing of a locus for heparin-induced thrombocytopenia on chromosome 5 identified in a genome-wide association study.在全基因组关联研究中,对染色体 5 上肝素诱导的血小板减少症的一个位点进行靶向重测序。
J Mol Med (Berl). 2018 Aug;96(8):765-775. doi: 10.1007/s00109-018-1661-6. Epub 2018 Jun 22.
8
Performance of epistasis detection methods in semi-simulated GWAS.连锁不平衡检测方法在半模拟 GWAS 中的性能。
BMC Bioinformatics. 2018 Jun 18;19(1):231. doi: 10.1186/s12859-018-2229-8.
9
Association mapping for total polyphenol content, total flavonoid content and antioxidant activity in barley.大麦中总多酚含量、总黄酮含量和抗氧化活性的关联图谱分析。
BMC Genomics. 2018 Jan 25;19(1):81. doi: 10.1186/s12864-018-4483-6.
10
Mergeomics: multidimensional data integration to identify pathogenic perturbations to biological systems.整合组学:用于识别生物系统致病扰动的多维数据整合
BMC Genomics. 2016 Nov 4;17(1):874. doi: 10.1186/s12864-016-3198-9.
一个用于注释和预测单核苷酸多态性影响的程序,即SnpEff:黑腹果蝇品系w1118、iso-2、iso-3基因组中的单核苷酸多态性。
Fly (Austin). 2012 Apr-Jun;6(2):80-92. doi: 10.4161/fly.19695.
4
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.贝叶斯推断分析类风湿关节炎的多基因结构。
Nat Genet. 2012 Mar 25;44(5):483-9. doi: 10.1038/ng.2232.
5
Enriched pathways for major depressive disorder identified from a genome-wide association study.从全基因组关联研究中鉴定出与重度抑郁症相关的富集途径。
Int J Neuropsychopharmacol. 2012 Nov;15(10):1401-11. doi: 10.1017/S1461145711001891. Epub 2012 Jan 16.
6
Genome-wide patterns of genetic variation in worldwide Arabidopsis thaliana accessions from the RegMap panel.来自 RegMap 面板的全球拟南芥品系的全基因组遗传变异模式。
Nat Genet. 2012 Jan 8;44(2):212-6. doi: 10.1038/ng.1042.
7
Statistical analysis of rare sequence variants: an overview of collapsing methods.稀有序列变异的统计分析:压缩方法概述。
Genet Epidemiol. 2011;35 Suppl 1(Suppl 1):S12-7. doi: 10.1002/gepi.20643.
8
Analysis of genome-wide association study data using the protein knowledge base.基于蛋白质知识库的全基因组关联研究数据分析。
BMC Genet. 2011 Nov 13;12:98. doi: 10.1186/1471-2156-12-98.
9
Genome-wide association studies and systems biology: together at last.全基因组关联研究和系统生物学:终于走到一起了。
Trends Genet. 2011 Dec;27(12):493-8. doi: 10.1016/j.tig.2011.09.002. Epub 2011 Oct 20.
10
Modifiers and subtype-specific analyses in whole-genome association studies: a likelihood framework.全基因组关联研究中的修饰因子和亚型特异性分析:一种似然性框架
Hum Hered. 2011;72(1):10-20. doi: 10.1159/000327158. Epub 2011 Aug 17.