Next-generation sequencing (NGS) has enabled scientists and researchers to better understand the genetic mechanisms linked to conditions, in areas such as women’s health or in diseases like cancer and infectious disease. More importantly, these advances have given rise to improved diagnostics for early intervention and monitoring treatment response, ensuring patients get the best therapies possible. Compared with first-generation sequencing and other popular diagnostic methods that are expensive and laborious, NGS has become widely accepted as the best tool for identifying subtle genetic differences in disease.
- The ability to rapidly generate large volumes of NGS sequencing data, together with a decrease in sequencing costs, allows for several advantages over traditional, more labor-intensive approaches.
- Additionally, NGS enables the sequencing of millions of fragments simultaneously per run and the detection of genetic variants for multiple genes in parallel. This is particularly true of short-read sequencing, which is extremely cost-effective and highly accurate for minor variant detection.
- On the other hand, long-read sequencing can resolve regions of the genome that are inaccessible to short reads; however, the costs and error rates in variant detection currently limit its use in routine diagnostic applications.