It's been a long story.
"We've been thinking about these large structural variations for decades," says Schwartz, whose work is funded by the National Institutes for Health and the National Science Foundation. "The problem was that the system for discerning large structural variants was not available. So we had to build it."
The integrative building process included studying the behavior of fluids at microscopic scale, manipulating large DNA molecules and placing barcodes on them, automating high-powered microscopes to analyze single molecules, organizing the computing infrastructure to handle the data and algorithms to analyze whole human genome, and more.
And after notable turns analyzing the DNA of corn, parasites, bacteria and even the mold that caused the 19th-century potato famine in Ireland, Schwartz has arrived at the human genome, his original target.
"It's like you spend years making a telescope, and then one day you point it at the sky and you discover things that no one else could see," he says. "We've integrated so many scientific problems together in a holistic way, which lets us solve very hard problems."
The result is a 30-day turnaround for one graduate student to analyze one human genome, but that's just a waypoint. Schwartz's team isn't just pointing at the sky. They are aiming for the stars by building new systems for personal genomics.
"This will go even further," says Konstantinos Potamousis, the lab's instrumentation innovator and a co-author on the study, which included researchers from UW-Madison, Mississippi State University, the University of Pittsburgh, the University of Southern California and the University of Washington. "Our sys
|Contact: David C. Schwartz|
University of Wisconsin-Madison