Building a disease-specific variant database from exome datasets

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, exist 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 with specific variants for Turkish population and providing an analysis platform allowing 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 Bootstrap, 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 searching options with respect to several variant properties. In addition, variants for an individual in the database can be compared the other variants and 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 disease by using Turkish population specific data and facilitates the analysis of big genetic data.