Genome Sequencing Technology Becoming More Efficient

FREMONT, CA : Early initiatives at sequencing genes were painstaking, time-consuming, and labor-intensive. Thankfully, this situation started to change during the mid-1970s, when researchers developed faster, more efficient techniques to sequence DNA. Over the next several decades, technological advances automated, dramatically sped up, and further refined the genome sequencing process. One human genome can't represent all of humanity. The human pan-genome reference will be a vital step forward for biomedical research and personalized medicine. Learn more here.

DNA sequence has been amplified, labeled, and then read from one end. This is useful for sequencing whole genomes, and the technology was leveraged to sequence the human genome. A library of fragments is made from a genome, and the fragments are read. Computational techniques assemble the fragments into long sequences. Nanopore sequencing, which pushes a molecule with a tiny pore, identifying the base as it moves through, was generated as one of the 'third-generation sequencing technologies.

With an intensive effort, researchers at UC Santa Cruz researchers could utilize nanopore technology for long-read human genome sequencing. The cost was brought down drastically, and the outcomes could were then achieved within about a week. The team sequenced eleven human genomes in nine days, which was unprecedented at the time. Also, an algorithm has been developed that can leverage long-read sequencing data to assemble a complete human genome in around six hours. The researchers said they expect their assembler will scale the pace of genomics research and open opportunities. This comprises allowing pangenome research to represent the accurate scale of human diversity, a decidedly more practical pursuit.

The new assembler was designed to be cheap and rapid, to be on the cloud. It gives the power to scale nanopore sequencing, and it helps in quickly assembling hundreds of de novo genomes in the next couple of years.