{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,26]],"date-time":"2025-04-26T09:06:05Z","timestamp":1745658365343},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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 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.<\/jats:p>\n               <jats:p>Availability and implementation: BALL-SNPgp is based on the comprehensive C\u2009++\u2009framework Biochemical Algorithms Library (BALL) and its visualization front-end BALLView. Our tool is available at www.ccb.uni-saarland.de\/BALL-SNPgp.<\/jats:p>\n               <jats:p>Contact: \u00a0ballsnp@milaman.cs.uni-saarland.de<\/jats:p>","DOI":"10.1093\/bioinformatics\/btw084","type":"journal-article","created":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T02:13:34Z","timestamp":1455588814000},"page":"1888-1890","source":"Crossref","is-referenced-by-count":2,"title":["BALL-SNPgp\u2014from genetic variants toward computational diagnostics"],"prefix":"10.1093","volume":"32","author":[{"given":"Sabine C.","family":"Mueller","sequence":"first","affiliation":[{"name":"1 Chair for Clinical Bioinformatics, Saarland University, Saarbr\u00fccken 66123, Germany"},{"name":"2 Department of Human Genetics, Saarland University, Homburg 66421, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Backes","sequence":"additional","affiliation":[{"name":"1 Chair for Clinical Bioinformatics, Saarland University, Saarbr\u00fccken 66123, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Gress","sequence":"additional","affiliation":[{"name":"3 Max Planck Institute for Informatics, Saarland University, Saarbr\u00fccken 66123, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Baumgarten","sequence":"additional","affiliation":[{"name":"1 Chair for Clinical Bioinformatics, Saarland University, Saarbr\u00fccken 66123, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga V.","family":"Kalinina","sequence":"additional","affiliation":[{"name":"3 Max Planck Institute for Informatics, Saarland University, Saarbr\u00fccken 66123, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Moll","sequence":"additional","affiliation":[{"name":"1 Chair for Clinical Bioinformatics, Saarland University, Saarbr\u00fccken 66123, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Kohlbacher","sequence":"additional","affiliation":[{"name":"4 Applied Bioinformatics, Center for Bioinformatics, Quantitative Biology Center"},{"name":"5 Department of Computer Science, University of Tuebingen, T\u00fcbingen 72076, Germany,"},{"name":"6 Biomolecular Interactions, Max Planck Institute for Developmental Biology, T\u00fcbingen 72076, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eckart","family":"Meese","sequence":"additional","affiliation":[{"name":"2 Department of Human Genetics, Saarland University, Homburg 66421, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Keller","sequence":"additional","affiliation":[{"name":"1 Chair for Clinical Bioinformatics, Saarland University, Saarbr\u00fccken 66123, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2016,2,15]]},"reference":[{"year":"2000","author":"Caetano Traina","key":"2023020112321188000_btw084-B1"},{"key":"2023020112321188000_btw084-B2","doi-asserted-by":"crossref","first-page":"D360","DOI":"10.1093\/nar\/gkn659","article-title":"PiSite: a database of protein interaction sites using multiple binding states in the PDB","volume":"37","author":"Higurashi","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"2023020112321188000_btw084-B3","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1186\/1471-2105-11-531","article-title":"BALL\u2013biochemical algorithms library 1.3","volume":"11","author":"Hildebrandt","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"2023020112321188000_btw084-B4","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1093\/bib\/bbu054","article-title":"Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy","volume":"16","author":"Mueller","year":"2015","journal-title":"Brief. Bioinform"},{"key":"2023020112321188000_btw084-B5","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13073-015-0190-y","article-title":"BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms","volume":"7","author":"Mueller","year":"2015","journal-title":"Genome Med"},{"key":"2023020112321188000_btw084-B6","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1007\/s00439-013-1325-0","article-title":"MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures","volume":"132","author":"Niknafs","year":"2013","journal-title":"Hum. 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