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Sabine C Müller, Christina Backes, Alexander Gress, Nina Baumgarten, Olga V Kalinina, Andreas Moll, Oliver Kohlbacher, Eckart Meese, and Andreas Keller (2016)

BALL-SNPgp – from genetic variants towards computational diagnostics


Summary: 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 3D 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