GSC gets big boost from small package

Work in the Genome Sequencing Center (GSC) is going to go a whole lot faster — hundreds of times faster.

Fast enough to sequence the entire genome of a bacterial organism in one day instead of several weeks.

That’s because the GSC has acquired a next-generation DNA sequencer to determine the order of a genome’s DNA units, or bases. No other DNA sequencer has its capacity and ease of use.

The entire machine is only about the size of a suitcase, whereas the current capillary-based sequencers are the size of a refrigerator.

The acquisition of the new sequencer at the GSC represents only the second installation of this new instrument anywhere in the world.

“Here, hundreds of thousands of sequencing reactions happen at once, and the instrument reads them all simultaneously,” said Elaine R. Mardis, Ph.D., co-director of the GSC and assistant professor of genetics and of molecular microbiology. “It’s a massively parallel approach to DNA sequencing.”

The whole-genome approach utilized by this instrument also eliminates a lot of preliminary work required by other sequencing equipment.

“It’s not only efficient, but it is also very cost-effective,” said Richard K. Wilson, Ph.D., director of the GSC and professor of genetics and of molecular microbiology.

“Our older sequencers cost about $350,000 and handle about 2,000 samples per day.

“The new machine costs $500,000, but it can run through 800,000 samples in an eight-hour workday.”

The GSC has been a vital part of the Human Genome Project, the international research effort that sequenced the entire human genome. GSC researchers were primarily responsible for sequencing chromosomes 2, 4, 7 and Y, producing the initial analyses of more than 20 percent of the human genome.

“This is the first new technology for large-scale DNA sequencing that has been developed and introduced in the 15 years we’ve been doing genome sequencing,” Wilson said. “It has spurred a lot of ideas about what the GSC can accomplish.”

With the reference sequence of the human genome complete, the new instrument will be useful for quickly resequencing additional human genomes to find variations that can provide insight into disease states.

“Because of its high throughput, the new sequencer will figure prominently in cancer genetics research and many other investigations that seek the genetic causes of disease,” Mardis said.