Ekzom Veri Setinden Hastalığa Özgü Varyant Veri Tabanı Oluşturulması
Özet
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
