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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer.

Jamie K Teer1, Eric D Green, James C Mullikin

  • 1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Bioinformatics (Oxford, England)
|January 3, 2012
PubMed
Summary
This summary is machine-generated.

VarSifter is a new graphical software tool that simplifies the analysis of large DNA sequencing datasets. This tool enables researchers of all skill levels to efficiently sort and filter sequence variation data for broader application of next-generation sequencing.

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Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Massively-parallel DNA sequencing generates vast amounts of sequence variation data.
  • Analyzing this data requires specialized computational skills and tools.
  • Existing tools may present barriers to researchers with varying computational expertise.

Purpose of the Study:

  • To introduce VarSifter, a user-friendly graphical software tool.
  • To facilitate the sorting, filtering, and analysis of exome-scale sequence variation data.
  • To make advanced sequence variation analysis accessible to a wider research community.

Main Methods:

  • VarSifter is a desktop application developed using Java.
  • It offers a graphical user interface for intuitive data manipulation.
  • Features include a variety of filters and a custom query framework for flexible data subsetting.

Main Results:

  • VarSifter enables easy and quick sorting and filtering of sequence variation data.
  • The software allows filtering based on any combination of sample and annotation information.
  • It simplifies the visualization and analysis of exome-scale sequence variation data.

Conclusions:

  • VarSifter empowers researchers with diverse computational backgrounds to effectively analyze sequence variation data.
  • The tool democratizes access to the power of massively-parallel DNA sequencing.
  • VarSifter is freely available in source and binary versions with a User Guide.