"This resource of universal controls will be extremely valuable to other research groups that are using sequencing to understand the genomic root causes of diseases," said Dr. Nicholas Schork, director of research of the Scripps Translational Science Institute (STSI). STSI is a major research initiative of Scripps Health, in collaboration with The Scripps Research Institute.
This study is now possible because the cost of whole human genome sequencing has decreased dramatically over the past few years, while the accuracy and efficiency of the technology has continued to increase. For example, it cost $3 billion to sequence the first human genome via the Human Genome Project in 2000. Just two years ago, Complete Genomics was charging $20,000 to sequence a human genome, and that price is now reduced to $5,000 apiece for small orders and $4,000 each in volume.
Dr. Clifford Reid, the CEO of Complete Genomics, added, "What could be more exciting than to be working with Dr. Topol and his colleagues at Scripps to discover what makes people healthy into their 80s and beyond? Now that Complete Genomics has made whole human genome sequencing affordable, accurate and scalable, we have the opportunity to uncover what's special in the genetic makeup of this extraordinarily healthy group of individuals."
Another valuable aspect of the Reference Resource will be the addition of Cypher Genomics clinical annotations to the sequencing datasets. Cypher Genomics is a project headed by Drs. Schork and Topol, as well as STSI faculty member Dr. Ali Torkamani and STSI industry liaison Dr. Ashley Van Zeeland. STSI has developed and plans to commercialize this software suite for annotating genomic variant lists with clinically relevant pathway and disease prediction information.
"The addition of Cypher Genomics annotat
|Contact: Steve Carpowich|