Many met the project with skepticism, as the huge costs of the project seemed to outweigh the potential benefits. Ultimately, it took researchers 10 years and $3B to complete the project.

However, it was widely considered a huge success, and ushered in a new era of medicine. The project’s completion also led to critical advances in the type of sequencing technology used to sequence DNA.

Several years later, the introduction of next-generation sequencing (NGS) brought a fundamentally different approach to DNA sequencing. It greatly reduced the cost and time it took to sequence an entire human genome, and, through advancements in the technology, allowed for targeted DNA enrichment methods that can perform even higher genome throughput at a reduced cost per sample.

What once took years and millions of dollars to complete now only takes a couple thousand dollars and a day or two, depending on the the platform and size of genome being sequenced.

Since its introduction, NGS technology has been used to determine the sequence of DNA or RNA (RNA-seq) to study genetic variation associated with diseases or other biological phenomena using DNA fragmentation (amplicon sequencing), library preparation, and sequencing, all at a massive scale. It continues to evolve at an unprecedented speed to this day.

Originally referred to as “massively parallel sequencing”, this high-throughput sequencing method allows scientists to:

• Routinely examine and sequence a single genome a large number of times (whole-genome sequencing)
• Observe individual changes in genes
• Study population variations in genes or biomarkers using whole exome sequencing
• Study the microbiome and metagenomics
• Differentiate cancer genomes from healthy genomes at higher rates of accuracy, sensitivity, and speed (making a significant impact on the field of oncology)
• Study the epigenome, providing comprehensive views of epigenetic modifications of many species and cell types.
• Investigate the possibility of personalized medicine

In addition, the development of RNA-seq is due in large part to the success of NGS. It has increased scientists’ and researchers’ understanding of RNA biology, gene expression, and the transcriptome, thanks to innovations in long-read and direct RNA-seq technologies as well as advanced computational tools for data analysis.

Furthermore, it allows for de novo sequencing and assembly, which is used when sequencing a novel genome without a reference sequence available for alignment.