Next Generation Sequencing in Healthcare
摘要
With the fast development and broad application of next-generation sequencing (NGS) technology, data on genomic sequences is now reaching the aims of solving the mystery of life, producing better crops, detecting infections, and improving quality of life. NGS approaches have greatly sped human genome decipherment and extended our understanding of genetic variants, disease causes, and evolutionary linkages. NGS is based on the accordance sequencing of millions of DNA units, which produces vast amounts of sequence data. This technology has accelerated the transition away from the Sanger sequencing method, providing several benefits like greater speed, throughput, and lower costs. Current sequencing methods, including short-read and long-read analysis, focus on the clinical use of NGS in genetic disorders, cancers, infectious diseases, and pharmacokinetic domains. With a wide range of applications, NGS has been increasingly employed as the gold standard in diagnosis and therapeutic treatments, as well as in prognosis, particularly in uncommon diseases. Despite its obvious benefits, NGS has met certain obstacles. Data processing, storage volume, and clinical interpretation continue to be major obstacles, necessitating the use of strong computing techniques and infrastructure. Furthermore, standardization and quality control methods are required to guarantee that results are reproducible and comparable across laboratories and sequencing platforms.