title: BALL-SNPgp-from genetic variants toward computational diagnostics.
abstract: 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-SNPgp
  
  
  
  ballsnp@milaman.cs.uni-saarland.de.
authors.affiliation: Chair for Clinical Bioinformatics, Saarland University, Saarbrücken 66123, Germany Department of Human Genetics, Saarland University, Homburg 66421, Germany.
authors.forename: Sabine C
authors.initials: SC
authors.lastname: Mueller
authors.affiliation: Chair for Clinical Bioinformatics, Saarland University, Saarbrücken 66123, Germany.
authors.forename: Christina
authors.initials: C
authors.lastname: Backes
authors.affiliation: Max Planck Institute for Informatics, Saarland University, Saarbrücken 66123, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Gress
authors.affiliation: Chair for Clinical Bioinformatics, Saarland University, Saarbrücken 66123, Germany.
authors.forename: Nina
authors.initials: N
authors.lastname: Baumgarten
authors.affiliation: Max Planck Institute for Informatics, Saarland University, Saarbrücken 66123, Germany.
authors.forename: Olga V
authors.initials: OV
authors.lastname: Kalinina
authors.affiliation: Chair for Clinical Bioinformatics, Saarland University, Saarbrücken 66123, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Moll
authors.affiliation: Applied Bioinformatics, Center for Bioinformatics, Quantitative Biology Center Department of Computer Science, University of Tuebingen, Tübingen 72076, Germany, Biomolecular Interactions, Max Planck Institute for Developmental Biology, Tübingen 72076, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Kohlbacher
authors.affiliation: Department of Human Genetics, Saarland University, Homburg 66421, Germany.
authors.forename: Eckart
authors.initials: E
authors.lastname: Meese
authors.affiliation: Chair for Clinical Bioinformatics, Saarland University, Saarbrücken 66123, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Keller
mesh_terms: D000465:Algorithms; D015723:Gene Library; D014644:Genetic Variation; D006801:Humans; D025202:Molecular Diagnostic Techniques; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary; D011506:Proteins
chemical_list: D011506:Proteins