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Enabling Versatile And Comprehensive Analysis Of Genomic Variant Data

  • The initially large number of variants is reduced by applying custom variant annotation and filtering procedures. This requires complex software toolchains to be set up and data sources to be integrated. Furthermore, increasing study sizes subsequently require higher efforts to manage datasets in a multi-user and multi-institution environment. It is common practice to expect numerous iterations of continuative respecification and refinement of filter strategies, when the cause for a disease or phenotype is unknown. Data analysis support during this phase is fundamental, because handling the large volume of data is not possible or inadequate for users with limited computer literacy. Constant feedback and communication is necessary when filter parameters are adjusted or the study grows with additional samples. Consequently, variant filtering and interpretation becomes time-consuming and hinders a dynamic and explorative data analysis by experts.
  • Die Next Generation Sequenzierung (NGS) identifiziert hunderttausende Mutationen pro Individuum und eröffnet der Forschung und medizinischen Behandlung neue Erkenntnisse. Dies führte zur verbesserten Charakterisierung von Tumoren, der Entdeckung neuer krankheitsverursachender Mechanismen bei genetischen Erkrankungen sowie der Identifizierung neuer Behandlungsmöglichkeiten. Sequenzierungexperimente sind multidisziplinäre Projekte, die die Fachkenntnisse unterschiedlicher Experten benötigen, um Daten zu generieren und zu verarbeiten. Die Ergebnisse werden von Genomikern (z.B. Molekularbiologen und Mediziner) interpretiert, um signifikante Varianten in einem Heuhaufen von Mutationen zu finden.

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Metadaten
Document Type:Doctoral Thesis
Language:English
Author:Sebastian Ginzel
Pagenumber:xii, 174
URL:https://nbn-resolving.org/urn:nbn:de:hbz:061-20190716-090253-7
Referee:Egon Wanke, Arndt Borkhardt, Ralf Thiele
Place of publication:Düsseldorf
Date of final exam:2019/06/28
Contributing Corporation:Heinrich-Heine-Universität
Date of first publication:2019/07/16
Departments, institutes and facilities:Fachbereich Informatik
Graduierteninstitut
Dewey Decimal Classification (DDC):0 Informatik, Informationswissenschaft, allgemeine Werke / 00 Informatik, Wissen, Systeme / 004 Datenverarbeitung; Informatik
Entry in this database:2019/08/14