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          Institute: MPI für Entwicklungsbiologie     Collection: Abteilung 1 - Protein Evolution (A. Lupas)     Display Documents



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ID: 733222.0, MPI für Entwicklungsbiologie / Abteilung 1 - Protein Evolution (A. Lupas)
BALL-SNPgp-from genetic variants toward computational diagnostics
Authors:Mueller, S. C.; Backes, C.; Gress, A.; Baumgarten, N.; Kalinina, O. V.; Moll, A.; Kohlbacher, O.; Meese, E.; Keller, A.
Date of Publication (YYYY-MM-DD):2016-06-15
Title of Journal:Bioinformatics
Volume:32
Issue / Number:12
Start Page:1888
End Page:1890
Review Status:Internal review
Audience:Not Specified
Abstract / Description:UNLABELLED: 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. AVAILABILITY AND IMPLEMENTATION: 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 CONTACT: ballsnp@milaman.cs.uni-saarland.de.
External Publication Status:published
Document Type:Article
Affiliations:MPI für Entwicklungsbiologie/Abteilung 1 - Proteinevolution (Andrei Lupas)
External Affiliations:Chair for Clinical Bioinformatics, Saarland University, Saarbrucken 66123, Germany. Max Planck Institute for Informatics, Saarland University, Saarbrucken 66123, Germany. Applied Bioinformatics, Center for Bioinformatics, Quantitative Biology Center Department of Computer Science, University of Tuebingen, Tubingen 72076, Germany, Biomolecular Interactions, Max Planck Institute for Developmental Biology, Tubingen 72076, Germany. Department of Human Genetics, Saarland University, Homburg 66421, Germany.
Identifiers:ISSN:1367-4811 (Electronic) 1367-4803 (Linking) %R 10.1... [ID No:1]
URL:https://www.ncbi.nlm.nih.gov/pubmed/27153685 [ID No:2]
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