Introduction

In medical research, it is crucial to understand the functional consequences of genetic alterations, for example, non-synonymous single nucleotide variants (nsSNVs). NsSNVs are known to be causative for several human diseases. However, the genetic basis of complex disorders such as diabetes or cancer comprises multiple factors. Methods to analyze putative synergetic effects of multiple such factors, however, are limited. Here, we concentrate on nsSNVs and present BALL-SNPgp, a tool for structural and functional characterization of nsSNVs, which is aimed to improve pathogenicity assessment in computational diagnostics. Based on annotated SNV data, BALL-SNPgp creates a three-dimensional visualization of the encoded protein, collects available information from different resources concerning disease relevance and other functional annotations, performs cluster analysis, predicts putative binding pockets and provides data on known interaction sites.BALL-SNPgp is based on the comprehensive C ++ framework Biochemical Algorithms Library (BALL) and its visualization front-end BALLView. Our tool is available at www.ccb.uni-saarland.de/BALL-SNPgpballsnp@milaman.cs.uni-saarland.de.

Publications

  1. BALL-SNPgp-from genetic variants toward computational diagnostics.
    Cite this
    Mueller SC, Backes C, Gress A, Baumgarten N, Kalinina OV, Moll A, Kohlbacher O, Meese E, Keller A, 2016-06-01 - Bioinformatics (Oxford, England)

Credits

  1. Sabine C Mueller
    Developer

    Chair for Clinical Bioinformatics, Saarland University, Germany

  2. Christina Backes
    Developer

    Chair for Clinical Bioinformatics, Saarland University, Germany

  3. Alexander Gress
    Developer

    Max Planck Institute for Informatics, Saarland University, Germany

  4. Nina Baumgarten
    Developer

    Chair for Clinical Bioinformatics, Saarland University, Germany

  5. Olga V Kalinina
    Developer

    Max Planck Institute for Informatics, Saarland University, Germany

  6. Andreas Moll
    Developer

    Chair for Clinical Bioinformatics, Saarland University, Germany

  7. Oliver Kohlbacher
    Developer

    Applied Bioinformatics, Center for Bioinformatics, Germany

  8. Eckart Meese
    Developer

    Department of Human Genetics, Saarland University, Germany

  9. Andreas Keller
    Investigator

    Chair for Clinical Bioinformatics, Saarland University, Germany

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Summary
AccessionBT000069
Tool TypeApplication
Category
PlatformsLinux/Unix
TechnologiesC++
User InterfaceTerminal Command Line
Download Count0
Country/RegionGermany
Submitted ByAndreas Keller