Suppr超能文献

ViVar:一个用于结构基因组变异分析和可视化的综合平台。

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.

作者信息

Sante Tom, Vergult Sarah, Volders Pieter-Jan, Kloosterman Wigard P, Trooskens Geert, De Preter Katleen, Dheedene Annelies, Speleman Frank, De Meyer Tim, Menten Björn

机构信息

Center for Medical Genetics, Faculty of Medicine and Health Sciences, Ghent University, Gent, Belgium.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

出版信息

PLoS One. 2014 Dec 12;9(12):e113800. doi: 10.1371/journal.pone.0113800. eCollection 2014.

Abstract

Structural genomic variations play an important role in human disease and phenotypic diversity. With the rise of high-throughput sequencing tools, mate-pair/paired-end/single-read sequencing has become an important technique for the detection and exploration of structural variation. Several analysis tools exist to handle different parts and aspects of such sequencing based structural variation analyses pipelines. A comprehensive analysis platform to handle all steps, from processing the sequencing data, to the discovery and visualization of structural variants, is missing. The ViVar platform is built to handle the discovery of structural variants, from Depth Of Coverage analysis, aberrant read pair clustering to split read analysis. ViVar provides you with powerful visualization options, enables easy reporting of results and better usability and data management. The platform facilitates the processing, analysis and visualization, of structural variation based on massive parallel sequencing data, enabling the rapid identification of disease loci or genes. ViVar allows you to scale your analysis with your work load over multiple (cloud) servers, has user access control to keep your data safe and is easy expandable as analysis techniques advance. URL: https://www.cmgg.be/vivar/

摘要

结构基因组变异在人类疾病和表型多样性中起着重要作用。随着高通量测序工具的兴起,配对末端测序/双末端测序/单读长测序已成为检测和探索结构变异的一项重要技术。现有多种分析工具可处理此类基于测序的结构变异分析流程的不同部分和方面。但目前缺少一个能处理从测序数据处理到结构变异发现与可视化等所有步骤的综合分析平台。ViVar平台旨在处理结构变异的发现,从覆盖度深度分析、异常读段对聚类到分裂读段分析。ViVar为您提供强大的可视化选项,便于结果报告,具有更好的可用性和数据管理功能。该平台有助于基于大规模平行测序数据对结构变异进行处理、分析和可视化,从而能够快速识别疾病位点或基因。ViVar允许您根据工作量在多个(云)服务器上扩展分析,具有用户访问控制以确保数据安全,并且随着分析技术的进步易于扩展。网址:https://www.cmgg.be/vivar/

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0f4/4264741/856f6935739c/pone.0113800.g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验