Next Generation Sequencing Data Platform Optimization Framework

Next generation sequencing (NGS) technology has recently been introduced into clinical diagnostics, having already profoundly changed the nature and scope of genomic research in previous years. The large volume of data generated at relatively low cost makes NGS an ideal platform for comprehensive mutation analysis of both constitutional disorders (i.e. germline alterations) and cancer diagnostics (i.e. somatic alterations). However, with the advent of NGS, clinical laboratories can offer cost-effective comprehensive gene panels for several complex inherited disorders. The main aim of this research paper is to process and analyze large-scale genomic data, enabling valuable insights into the genomic landscape of cancer and facilitating precision oncology initiatives.