Application of new generation sequencing system to diagnosis and approach of bioinformatic tools

For the past 50 years, researchers have been struggling to produce techniques and technologies that allow sequencing of DNA and RNA. This time intesrval has witnessed a tremendous improvement from these squencing of small molecules to these squencing of the entire genome. The Next-Generation Sequencing (NGS) method is based on by forming a library with a plurality of DNA fragments by cutting the base DNA with enzymatic reactions and the amplification of DNA fragments constituting the library. According to OMIM statistics, there are now more than 6,000 single gene disorders and molecular basis of nearly two thirds of these disorder is unknown. With NGS technology, in addition to whole genomes and whole exome sequencing, a large number of genes can be sequenced for the etiology of diseases with genetic heterogeneity using target-oriented NGS panels at the same time. It is possible to reveal the genetic basis of phenotypic and genotypic heterogeneous diseases with the development of new generation lineage analyzes. In this thesis, important developments that constitute the basis of DNA sequencing in this time period, the emergence and development of techniques and technologies also applications for next generation technologies used in sequencing are explained.