By Rabiya S. Tuma, PhD | February 23, 2018
“We were able to generate enough data to put together a human genome assembly that was in many respects superior to that initial draft,” continued Paten, who currently oversees the Center for Big Data in Translational Genomics and is an assistant professor in the Department of Biomolecular Engineering at the University of California, Santa Cruz. “Not in all respects — let me be clear, there are some rough edges — but in many respects superior to the original draft. So that, just as a technical achievement, is quite amazing.” Eric Topol, MD, founder and director of the Scripps Translational Science Institute in La Jolla, California, seconds that statement, noting that many people thought it would take years before the human genome sequence could be assembled inexpensively from small machines. The portability and low cost will be important for translation to patient care, continues Topol, who is also editor-in-chief of Medscape. “It opens up opportunities in patient care. It takes genomics all over the world, to less developed countries. There are undiagnosed diseases all around the word that would be demystified with this.
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