Please use this identifier to cite or link to this item: doi:10.22028/D291-28714
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Title: Genotyping inversions and tandem duplications
Author(s): Ebler, Jana
Schönhuth, Alexander
Marschall, Tobias
Language: English
Title: Bioinformatics
Volume: 33
Issue: 24
Startpage: 4015
Endpage: 4023
Publisher/Platform: Oxford University Press
Year of Publication: 2019
Publikation type: Journal Article
Abstract: Next Generation Sequencing (NGS) has enabled studying structural genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been shown to play important roles in multiple diseases, including cancer. As costs for NGS continue to decline and variant databases become ever more complete, the relevance of genotyping also SVs from NGS data increases steadily, which is in stark contrast to the lack of tools to do so.
DOI of the first publication: 10.1093/bioinformatics/btx020
Link to this record: hdl:20.500.11880/27712
ISSN: 1367-4803
Date of registration: 7-Sep-2019
Faculty: MI - Fakultät für Mathematik und Informatik
Department: MI - Informatik
Professorship: MI - Prof. Dr. Tobias Marschall
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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