What are the applications of next-generation sequencing?

NGS has a wide array of different applications. One application is its ability to quickly sequence hundreds to thousands of genes or entire genomes. It is also capable of thoroughly sequencing specific target regions, which is crucial for studying particular genes. Additionally, NGS can be used to study epigenetic factors, including genome-wide DNA methylation processes and DNA-protein interactions. This helps in understanding how genes are regulated. At the transcriptome level, NGS captures entire RNA transcripts within a specific cell type. This includes mRNA, rRNA, tRNA, micro-RNA, and non-coding RNA. This specific application is referred to as RNA sequencing (RNA-Seq). RNA-Seq is utilized to explore the transcriptome by discovering novel RNA variants, quantifying mRNA levels for gene expression analysis and identifying splice sites. Another application of NGS is its use for detecting and identifying novel pathogens. By sequencing the genomes of pathogens, researchers can understand their genetic traits. NGS is also crucial for characterizing the human microbiome by sequencing the DNA of microorganisms living in and on the human body.

In clinical settings, NGS has various important applications. NGS is an effective technique for identifying sequence mutations or variants. These genetic changes (following detection) play a crucial role in various aspects of medical practice such as disease diagnosis, therapeutics, prognosis, and ongoing patient monitoring. As an example, in cancer patient diagnostics the predominant NGS method is targeted panel sequencing. This approach typically examines dozens or even hundreds of specific genes relevant to a particular disease or group of diseases. These targeted NGS assays are specifically created for certain conditions, (e.g. carcinoma or myeloid leukemia).