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Savant:高通量测序数据的基因组浏览器。

Savant: genome browser for high-throughput sequencing data.

机构信息

Department of Computer Science, University of Toronto, Ontario, Canada.

出版信息

Bioinformatics. 2010 Aug 15;26(16):1938-44. doi: 10.1093/bioinformatics/btq332. Epub 2010 Jun 20.

Abstract

MOTIVATION

The advent of high-throughput sequencing (HTS) technologies has made it affordable to sequence many individuals' genomes. Simultaneously the computational analysis of the large volumes of data generated by the new sequencing machines remains a challenge. While a plethora of tools are available to map the resulting reads to a reference genome, and to conduct primary analysis of the mappings, it is often necessary to visually examine the results and underlying data to confirm predictions and understand the functional effects, especially in the context of other datasets.

RESULTS

We introduce Savant, the Sequence Annotation, Visualization and ANalysis Tool, a desktop visualization and analysis browser for genomic data. Savant was developed for visualizing and analyzing HTS data, with special care taken to enable dynamic visualization in the presence of gigabases of genomic reads and references the size of the human genome. Savant supports the visualization of genome-based sequence, point, interval and continuous datasets, and multiple visualization modes that enable easy identification of genomic variants (including single nucleotide polymorphisms, structural and copy number variants), and functional genomic information (e.g. peaks in ChIP-seq data) in the context of genomic annotations.

AVAILABILITY

Savant is freely available at http://compbio.cs.toronto.edu/savant.

摘要

动机

高通量测序(HTS)技术的出现使得对许多个体的基因组进行测序变得经济实惠。与此同时,新测序仪器产生的大量数据的计算分析仍然是一个挑战。虽然有大量的工具可用于将生成的读取映射到参考基因组,并对映射进行初步分析,但通常需要直观地检查结果和基础数据,以确认预测并理解功能影响,特别是在其他数据集的背景下。

结果

我们引入了 Savant,这是一个用于基因组数据的桌面可视化和分析浏览器,用于序列注释、可视化和分析工具。Savant 是为可视化和分析 HTS 数据而开发的,特别注意在存在千兆字节的基因组读取和人类基因组大小的参考的情况下实现动态可视化。Savant 支持基于基因组的序列、点、区间和连续数据集的可视化,以及多种可视化模式,可轻松识别基因组变体(包括单核苷酸多态性、结构和拷贝数变体)以及功能基因组信息(例如 ChIP-seq 数据中的峰)在基因组注释的上下文中。

可用性

Savant 可在 http://compbio.cs.toronto.edu/savant 上免费获得。

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