About the Project

The Presidency of the Institutes of Health of Turkey (TÜSEB) has undertaken the task of realizing the Turkey National Genome and Bioinformatics Project to analyze the molecular mechanisms of diseases, develop new diagnostic and therapeutic methods and initiate individual-specific medicine studies. The first phase of the project was completed in 2017 and the second phase of the project was included in the investment plan of the Presidency of the Republic of Turkey Strategy and Budget Presidency in 2022. Within the scope of the project, the infrastructure of the Turkish National Genome Center (TUGEM) was established at TÜSEB Ankara Aziz Sancar Research Center and 557 samples were sequenced by whole genome sequencing method. Sequencing and analysis processes are still ongoing within the scope of the ongoing project. You can visit tugem.tuseb.gov.tr for information about TUGEM infrastructure and the team.

DNA isolations were performed from whole blood samples taken from volunteer individuals for whole genome sequencing and library preparations were made. Sequencing of these libraries was performed on Illumina Novaseq 6000 devices. was performed. The raw data obtained from whole genome sequencing is stored in a closed networked data storage units, and whole genome sequencing analysis (DRAGEN DNA Pipeline) was performed using Dragen Bio-IT (v 4.0) local server

The reference genome version used in the analyses is hg38 (GRCh38). The number of variants in version 1.0 is as follows:

SNV = 18296946
Insertion = 811175
Deletion = 1232817

Criteria for Inclusion in the Study

In order for the volunteers to be included in the Turkey National Genome and Bioinformatics Project, it was taken into consideration that they were not related to each other and that they met the following criteria:

• Being a citizen of the Turkish Republic
• To have sufficient mental and functional capacity to communicate
• The individual is capable of understanding the purpose, risks and results of the study and giving written consent
• Not having hereditary diseases in themselves and their 1st degree relatives (parents, siblings and children)
• Not having a known chronic disease
• Not having any disease that requires continuous medication
• Biological samples (blood, urine, stool, saliva, etc.) required for analysis must be available