Scheiper-Welling, Stefanie (2022)
Molecular genetic analyses in hereditary cardiac arrhythmia syndromes.
Technische Universität Darmstadt
doi: 10.26083/tuprints-00022880
Ph.D. Thesis, Primary publication, Publisher's Version
Abstract
The present thesis describes the value and application of NGS in genetic investigations of sudden unexpected death cases and inherited arrhythmia syndromes using targeted sequencing. It represents the conceptualization, establishment and optimization of an NGS workflow for challenging heterogeneous - forensic and diagnostic - sample material. Furthermore, this work illustrates the need of characterization experiments of variants with unknown functional relevance.
| Item Type: | Ph.D. Thesis | ||||
|---|---|---|---|---|---|
| Erschienen: | 2022 | ||||
| Creators: | Scheiper-Welling, Stefanie | ||||
| Type of entry: | Primary publication | ||||
| Title: | Molecular genetic analyses in hereditary cardiac arrhythmia syndromes | ||||
| Language: | English | ||||
| Referees: | Thiel, Prof. Dr. Gerhard ; Kauferstein, Prof. Dr. Silke | ||||
| Date: | 2022 | ||||
| Place of Publication: | Darmstadt | ||||
| Collation: | 94 Seiten | ||||
| Refereed: | 8 November 2022 | ||||
| DOI: | 10.26083/tuprints-00022880 | ||||
| URL / URN: | https://tuprints.ulb.tu-darmstadt.de/22880 | ||||
| Abstract: | The present thesis describes the value and application of NGS in genetic investigations of sudden unexpected death cases and inherited arrhythmia syndromes using targeted sequencing. It represents the conceptualization, establishment and optimization of an NGS workflow for challenging heterogeneous - forensic and diagnostic - sample material. Furthermore, this work illustrates the need of characterization experiments of variants with unknown functional relevance. |
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| Status: | Publisher's Version | ||||
| URN: | urn:nbn:de:tuda-tuprints-228806 | ||||
| Classification DDC: | 500 Science and mathematics > 570 Life sciences, biology | ||||
| Divisions: | 10 Department of Biology 10 Department of Biology > Plant Membrane Biophyscis (20.12.23 renamed in Biology of Algae and Protozoa) |
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| Date Deposited: | 23 Nov 2022 13:11 | ||||
| Last Modified: | 24 Nov 2022 06:48 | ||||
| PPN: | |||||
| Referees: | Thiel, Prof. Dr. Gerhard ; Kauferstein, Prof. Dr. Silke | ||||
| Refereed / Verteidigung / mdl. Prüfung: | 8 November 2022 | ||||
| Export: | |||||
| Suche nach Titel in: | TUfind oder in Google | ||||
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