Yale one of first institutions to get powerful new DNA sequencing technology

Yale University is one of three institutions to acquire new DNA sequencing technology that its creator says will allow researchers to sequence the entire human genome within 24 hours at a cost of just $1,000.

The benchtop DNA sequencers, developed by Yale alumnus Jonathan M. Rothberg, represent a dramatic improvement over existing technology that can take months and up to $10,000 to sequence the three billion letters of the human genome.

"Cost, speed, and accuracy are key elements in the use of DNA sequencing for both disease-gene discovery and clinical utility," said Richard Lifton, chair of the Department of Genetics at Yale School of Medicine. "The technological advances in the new instrument promise to be game-changing for both research and clinical applications."

Yale, Baylor College of Medicine, and the Broad Institute are the first three institutions to acquire the Ion Proton Sequencers, announced Life Technologies Corporation of San Francisco on Jan. 10.

Lifton has long predicted that the decreasing cost of sequencing will not only help researchers discover hard-to-find genetic variants that contribute to the onset of many diseases but allow doctors to diagnose and treat individual patients based on their genetic makeup.

Lifton, Sterling Professor of Genetics and an investigator for the Howard Hughes Medical Institute, is one of the world’s leading pioneers in exome sequencing, or the sequencing of DNA that code for proteins. Under Lifton’s leadership, the Center for Genome Analysis at Yale’s West Campus has used this technique to discover new genes and biochemical mechanisms contributing to diverse diseases, including cardiovascular disease, cancer, autism, and congenital malformations. The Yale researchers have also used the method to diagnose perplexing medical conditions.

"The seamless links between basic science and clinical medicine at Yale, along with the remarkable talent across the University, have allowed us to build exceptional research teams at the forefront of many disease areas of great public health importance. We are very excited by the opportunity to use this new technology to accelerate our efforts," Lifton said.

The company says its Ion Proton(TM) Sequencer can sequence both exomes and the much larger genetic alphabet of the entire human genome using semiconductor technology. Under a separate agreement, the company will collaborate with Carnegie Mellon University to develop software that will help doctors to interpret genetic data generated.

"Just six months after our first semiconductor sequencing chip was released, people used it to solve the German E. coli outbreak, sequencing the toxic strain in just a couple of hours," said Rothberg, the founder and CEO of Ion Torrent division of Life Technologies, which developed the technology. "Now, six months later we’re developing a chip that’s 1,000 times more powerful than that to sequence an entire human genome in about the same amount of time. That’s the power that semiconductors bring to sequencing."

Rothberg, a New Haven native, received his Ph.D. in biology from Yale in 1991. He has founded several successful biotechnology companies.