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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Next generation tools for genomic data generation, distribution, and visualization.

David A Nix1, Tonya L Di Sera, Brian K Dalley

  • 1Department of Oncological Sciences, University of Utah, Huntsman Cancer Institute, Salt Lake City, USA. david.nix@hci.utah.edu

BMC Bioinformatics
|September 11, 2010
PubMed
Summary
This summary is machine-generated.

Managing genomic data is crucial with advancing sequencing technologies. We developed three open-source tools (GNomEx, GenoPub, GWrap) for efficient genomic data analysis, distribution, and visualization.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • High-throughput sequencing and microarray technologies are increasingly accessible.
  • Genomic data management, analysis, and sharing present a significant bottleneck.
  • Efficient tools are needed to leverage the potential of genomic data.

Purpose of the Study:

  • To present three open-source, platform-independent software tools.
  • To facilitate the generation, analysis, distribution, and visualization of genomic data.
  • To address the challenges in managing and sharing complex genomic information.

Main Methods:

  • Developed GNomEx: a LIMS and analysis project center for next-generation sequencing/microarray data.
  • Developed GenoPub: an application for annotating and distributing genomic data via DAS/2 protocol.
  • Developed GWrap: a Java Swing application providing GUI access to command-line analysis tools.

Main Results:

  • GNomEx and GenoPub utilize a Flex/Flash web interface, Java classes, and a relational database.
  • A public-private user-group security model allows controlled data distribution.
  • Tools enable manual and programmatic access to genomic data repositories, including through the Integrated Genome Browser.

Conclusions:

  • The developed software tools are widely used in core facilities, research labs, and clinics.
  • These tools are freely available for non-profit use.
  • The software facilitates efficient genomic data handling and analysis.