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doi:10.22028/D291-28714
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 http://dx.doi.org/10.22028/D291-28714 |
ISSN: | 1367-4803 1460-2059 |
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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