Validation of next generation sequencing method for tumor spesific mutations and bioinformatics variant analysis

Next Generation Sequencing (NGS) empowers the importance and the other aspects of genetics. NGS has the sensitivity of detection at faster pace than that of traditional diagnostics, the utilization and application of this new technology still remains a constant challenge due to the lack of literature especially in Turkish. NGS has allowed us to analyze thousands of genes at the same time, and made it possible to acquire more data about both the patient and the disease. Thus, NGS allows a more complete overview of patients in diagnostic prognosis and therapy prediction. Therefore, boosting the validity and heighten the trust worthiness of the technical performance becomes more essential. NGS test development, optimization and validation with the reliability of data and its interpretation requires highly experienced clinical and laboratory team. Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) provides an opportunity to do this thesis through the multi-gene solid tumor panel using a new NGS system to identify variants that are important for medical genetics and medical oncology. In this thesis, the validation and optimization of a new NGS system had been evaluated for clinical utility. This study contributes to literature especially the Turkish, by sharing information and recommendations to help clinical laboratory professionals.