Ekzom Veri Setinden Hastalığa Özgü Varyant Veri Tabanı Oluşturulması

Abstract

Adabalı, Y., Building a Disease-specific Variant Database from Exome Datasets, Hacettepe University Graduate School Health Sciences Department of Bioinformatics Master’s Thesis, Ankara, 2019. After the completion of human reference genome sequence with the Human Genome Project, an increasing nıumber of individuals have been sequenced with next-generation sequencing technologies. This has shown that millions of genetic differences, called genetic variants, exists between individuals. Some of these genetic variants are known to cause genetic disorders. However, it is difficult to pinpoint a disease-causing variant among the many variants present in an individual. The aim of this thesis is to collect genetic variant data from individuals with suspected genetic disorders to establish a variant database. This database will provide analysis of specific variants for Turkish population and providing a platform that allows comparative analysis of individual data. For this purpose, MS-SQL as the database mangement system; ASP, .NET, MVC in the back-end; Entity Framework as object-relational mapping tool; HTML5 and CSS technologies and Bootsrap, Javascript ve Jquery libraries in the front-end were used. The built system establishes an expandable database by incorporating tabular file formats such as .tsv, .csv which are annotated by the Ion Reporter software. The database allows query options with respect to several variant properties. In addition, variants for an individual in the database can be compared against the other variants which can be filtered by 3 modes of disease type and inheritance pattern, frequency of variants in in-house and international variant databases and the effect or position of variants. In conclusion, the established database provides a quick and effective analysis of genetic variants that can be related to several diseases by using specific data for Turkish population and facilitates the analysis of this big genetic data. Key Words: Whole exome sequencing, Genetic database, Genetic variation, Genotype