Creation of a genetic platform for the detection of pathogenic DNA fragment variants using NGS technology
The completion of human genome sequencing in 2003 redefined the molecular basis for understanding many diseases and conditions at the genetic level. Decoding the sequence of the human genome has led to a radical change in genetic medicine as the association of genes with disease. The application of genetic knowledge to clinical practice in the last 4 years has been driven by the development of next generation sequencing (NGS) systems. NGS technology, also known as massive parallel sequencing, is an innovative high throughput DNA sequencing methodology. NGS technology is the new genetic “weapon”, making it possible to sequence all genes (whole exome sequencing) and the entire human genome (whole genome sequencing) in just a few days, generating huge amounts of information data.