Gene Ontology-based framework to annotate genes of hearing

von Guvanchmyrat Ovezmyradov
Dissertation
Datum der mündl. Prüfung:2012-10-23
Erschienen:2013-10-22
Betreuer:Prof. Dr. Martin Göpfert
Gutachter:Prof. Dr. Martin Göpfert
Gutachter:Prof. Dr. Burkhard Morgenstern
Zum Verlinken/Zitieren: http://dx.doi.org/10.53846/goediss-4108

 

 

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Zusammenfassung

Englisch

As the number of discovered deafness genes and our knowledge about their role in hearing continuously increases, the need to accurately manage this genetic information is becoming more apparent. Gene Ontology (GO) is a golden standard for gene annotation and the GO database is central to bioinformatics. This thesis demonstrates how GO terms can be used to annotate auditory genes and their gene products in a systematic and sustainable manner. The GO-based framework proposed in this study facilitates the comprehensive annotation of single genes as well as the integrated analysis of high-throughput data related to hearing in multiple species. This practical framework approaches hearing on various levels of molecular complexity comprising genes, transcripts and gene networks: Combining emerging data about deafness genes with the adequate bioinformatics infrastructure helps to leverage the value of gene annotations and can thus contribute to a better understanding of hearing and hearing disorders. In addition to utilizing existing bioinformatics tools, a novel web-based application for mining the GO database with complex queries is presented and applied to extract information about auditory relevant genes. Future perspectives include further extension of this flexible framework to other data sources, such as expression databases and phenotype ontologies, to build powerful platforms for integrative data analysis. This study is a step forward towards systems biology approaches that are expected to broaden hearing research horizons and ultimately translate into novel strategies for fighting deafness.
Keywords: hearing; auditory genes; Gene Ontology; gene annotation
 
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