Savant Genome Browser 2: visualization and analysis for population-scale genomics

被引:29
作者
Fiume, Marc [1 ]
Smith, Eric J. M. [1 ]
Brook, Andrew [1 ]
Strbenac, Dario [2 ]
Turner, Brian [3 ]
Mezlini, Aziz M. [4 ]
Robinson, Mark D. [5 ]
Wodak, Shoshana J. [2 ,6 ]
Brudno, Michael [1 ,4 ]
机构
[1] Univ Toronto, Dept Comp Sci, Toronto, ON M5S 2E4, Canada
[2] Garvan Inst Med Res, Canc Res Program, Epigenet Lab, Sydney, NSW 2011, Australia
[3] Hosp Sick Children, Mol Struct & Funct Program, Toronto, ON M5G 1L7, Canada
[4] Hosp Sick Children, Ctr Computat Med, Toronto, ON M5G 1L7, Canada
[5] Univ Zurich, Inst Mol Life Sci, CH-8057 Zurich, Switzerland
[6] Univ Toronto, Dept Biochem, Toronto, ON M5S 1A8, Canada
基金
加拿大自然科学与工程研究理事会;
关键词
SEQUENCING DATA; UCSC;
D O I
10.1093/nar/gks427
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
High-throughput sequencing (HTS) technologies are providing an unprecedented capacity for data generation, and there is a corresponding need for efficient data exploration and analysis capabilities. Although most existing tools for HTS data analysis are developed for either automated (e.g. genotyping) or visualization (e.g. genome browsing) purposes, such tools are most powerful when combined. For example, integration of visualization and computation allows users to iteratively refine their analyses by updating computational parameters within the visual framework in real-time. Here we introduce the second version of the Savant Genome Browser, a standalone program for visual and computational analysis of HTS data. Savant substantially improves upon its predecessor and existing tools by introducing innovative visualization modes and navigation interfaces for several genomic datatypes, and synergizing visual and automated analyses in a way that is powerful yet easy even for non-expert users. We also present a number of plugins that were developed by the Savant Community, which demonstrate the power of integrating visual and automated analyses using Savant. The Savant Genome Browser is freely available (open source) at www.savantbrowser.com.
引用
收藏
页码:W615 / W621
页数:7
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