Revista de genómica clínica y médica

Applications of Next-Generation Sequencing in Cancer Research and Molecular Diagnosis

Abstract

Wang K and Xu C

Next-generation sequencing (NGS) technologies including DNA sequencing and RNA sequencing provide “omics” approaches to reveal genomic, transcriptomic, and epigenomic landscapes of individual cancers. A variety of genomic aberrations can be screened simultaneously, such as common and rare variants, structural variations (e.g. insertions and deletions), copy-number variation, and fusion transcripts. NGS technologies together with bioinformatics analysis, which expand our knowledge, are increasingly used to simultaneously analyze multiple genes in a cost and time-effective manner and have been applied in analyzing clinical cancer samples and offering NGS-based molecular diagnosis. Therefore, NGS is increasingly valuable as a tool for diagnosis for a number of cancers. Here we briefly introduce NGS technologies and summarize the recent applications in cancer research and molecular diagnosis in breast and prostate cancers.