Recent Advances in Next-Generation Sequencing in Diagnostic Pathology

Abstract

Next-generation sequencing (NGS) has revolutionized diagnostic pathology by offering more extensive and rapid genomic examination compared to traditional approaches. This review assesses the recent developments in NGS and their use in the diagnosis of diseases. The results based on secondary data illustrate advances in sequencing accuracy, long-read sequencing technologies, and clinical uses in the fields of oncology, hematology, genetic diseases, and infectious diseases. Nevertheless, NGS continues to be at the core of precision medicine despite issues associated with cost and implementation. The developments of the future based on artificial intelligence and the combination of multiomics could help improve the practice of diagnosis and the outcomes of patients further.