The Role of Technology in Transforming the Life Sciences Industry

Sanger sequencing is ideal for assessing modest numbers of gene targets and samples in a single day.”

Fremont, CA: Next-generation sequencing (NGS) is a technique for determining the sequence of DNA or RNA to explore genetic variation in diseases or other biological phenomena. This approach, which was first commercialised in 2005, was first referred to as "massively parallel sequencing" since it allowed the sequencing of numerous DNA strands simultaneously, rather than one at a time, as with standard Sanger sequencing by capillary electrophoresis (CE).

In today's genetic analysis context, each of these tools has utility. Sanger sequencing is ideal for assessing modest numbers of gene targets and samples in a single day. Sanger sequencing is likewise regarded as the gold standard in sequencing technology. Hence NGS results are frequently validated using it.

NGS allows for the simultaneous interrogation of hundreds to thousands of genes in multiple samples and the discovery and analysis of various types of genomic features in a single sequencing run, ranging from single nucleotide variants (SNVs) to copy number and structural variants, and even RNA fusions. NGS offers the best throughput per run, and studies may be completed fast and affordably. NGS also has fewer sample input requirements, higher accuracy, and the capacity to detect variations at lower allele frequencies than sanger sequencing.

Every individual cell in a tissue can be probed for specific genetic information of relevance. Not unexpectedly, cancer panels are available that look for this information in pre-selected genes! However, as technology advances and allows doctors to investigate individual cells at the molecular level, more intricate features can emerge that would improve their understanding and capacity to respond.