Literature DB >> 20562449

Savant: genome browser for high-throughput sequencing data.

Marc Fiume1, Vanessa Williams, Andrew Brook, Michael Brudno.   

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.

Entities:  

Mesh:

Year:  2010        PMID: 20562449      PMCID: PMC3271355          DOI: 10.1093/bioinformatics/btq332

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  18 in total

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Review 5.  Computational methods for discovering structural variation with next-generation sequencing.

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Journal:  Nat Methods       Date:  2009-11       Impact factor: 28.547

Review 7.  Visualizing genomes: techniques and challenges.

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Journal:  Nat Methods       Date:  2010-02-25       Impact factor: 28.547

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  57 in total

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5.  Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.

Authors:  Lindsay S Cahill; Jessie M Cameron; Julie Winterburn; Patrick Macos; Johnathan Hoggarth; Misko Dzamba; Michael Brudno; Lauryl M J Nutter; Thomas J Sproule; Robert W Burgess; R Mark Henkelman; John G Sled
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6.  STAR: an integrated solution to management and visualization of sequencing data.

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7.  Light-RCV: a lightweight read coverage viewer for next generation sequencing data.

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Review 8.  Massively parallel sequencing approaches for characterization of structural variation.

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Journal:  Methods Mol Biol       Date:  2012

9.  Detecting copy number variation with mated short reads.

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10.  NGS analyses by visualization with Trackster.

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