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A new method for DNA sequencing, called nanopore sequencing, is making big waves in the world of genomics. Because it operates on different principles than traditional sequencing methods, this method is opening up new frontiers in understanding genomes and new uses for sequencing. 

Hidden Genome Blue DNA

Aaron Quinlan, PhD,, associate director of the USTAR Center for Genetic Discovery and his team are optimizing the technology’s ability to read complex sequences from any number of organisms, ranging from virus to human. Together with collaborators, they have already shown that nanopore sequencing can read with high accuracy the three billion base pairs of DNA that make up the human genome. The finding has set a new benchmark. If the small instrument can motor through the long and complex human genome, it should be able to read nearly any DNA sequence.

What’s more, the scientists successfully analyzed regions of the human genome that, until now, had remained difficult to decipher. The technology has proven superior at characterizing large changes in DNA that cause disease including major DNA rearrangements, repeats, or deletions, opening up a new realm for disease gene discovery.

Quinlan’s group is continuing to optimize the technology to make DNA sequencing even better, faster, and more useful. In tandem, they are adapting nanopore sequencing for new uses including reading the epigenetic code – chemical tags on DNA – opening new frontiers in understanding causes of disease.

Another distinct advantage is that nanopore has enabled sequencing machines to shrink from being the size of a refrigerator to the size of a cell phone, and to be priced at one one-hundredth of the cost. With its accuracy, portability and affordability comes the possibility of bringing DNA analyses to remote locations, the forensics lab, and the bedside.