title: Ioncopy: an R Shiny app to call copy number alterations in targeted NGS data creator: Budczies, Jan creator: Pfarr, Nicole creator: Romanovsky, Eva creator: Endris, Volker creator: Stenzinger, Albrecht creator: Denkert, Carsten subject: ddc-610 subject: 610 Medical sciences Medicine description: Background: Somatic copy number alterations (CNAs) contribute to the clinically targetable aberrations in the tumor genome. For both routine diagnostics and biomarkers research, CNA analysis in a single assay together with somatic mutations is highly desirable. Results: Ioncopy is a validated method and easy-to-use software for CNA calling from targeted NGS data. Copy number and significance of CNA are estimated for each gene in each sample. Copy number gains and losses are called after multiple testing corrections controlling FWER or FDR. Conclusions: Ioncopy facilitates calling of CNAs in a cohort of tumors tissues with or without using normal (germline) DNA controls. publisher: BioMed Central ; Springer date: 2018 type: Article type: info:eu-repo/semantics/article type: NonPeerReviewed format: application/pdf identifier: https://archiv.ub.uni-heidelberg.de/volltextserverhttps://archiv.ub.uni-heidelberg.de/volltextserver/24421/1/12859_2018_Article_2159.pdf identifier: DOI: identifier: urn:nbn:de:bsz:16-heidok-244215 identifier: Budczies, Jan ; Pfarr, Nicole ; Romanovsky, Eva ; Endris, Volker ; Stenzinger, Albrecht ; Denkert, Carsten (2018) Ioncopy: an R Shiny app to call copy number alterations in targeted NGS data. BMC Bioinformatics, 19 (157). pp. 1-4. ISSN 1471-2105 relation: https://archiv.ub.uni-heidelberg.de/volltextserver/24421/ rights: info:eu-repo/semantics/openAccess rights: Please see front page of the work (Sorry, Dublin Core plugin does not recognise license id) language: eng