Children’s Hospital of Philadelphia and the next-generation sequencing firm analyzed 1,000 genomes in under 3 hours.
(Photo courtesy of Edico Genome)
In just 2 hours and 25 minutes last week, 1,000 pediatric genome samples were converted into useable genetic data files—the sort of feat that would have been unthinkable a decade ago.
Guinness World Records attended the American Society of Human Genetics 2017 Annual Meeting to certify that Edico Genome’s DRAGEN Genome Pipeline had analyzed all 1,000 samples in record time. The genetic samples came from the Children’s Hospital of Philadelphia’s (CHOP) Center for Applied Genomics (CAG).
"When it comes to delivering critical diagnoses to our patients, speed—combined with accuracy—are of the utmost importance," Hakon Hakonarson, MD, PhD, director of CAG, said in a statement. "[The] speed test is a culmination of two years of collaboration between CAG and Edico Genome.”
The samples were processed using the Amazon Web Services (AWS) Cloud. According to the statement, it “allowed the team to simultaneously draw on the combined computing power of 1,000 field programmable gate array (FPGA) enabled Amazon EC2 F1 instances.”
Noteworthy was the demographic breakdown of the samples analyzed. It was one of the largest-ever cohorts of African American samples sequenced to date, at more than 60% of the total. As part of CAG’s efforts to develop new ways to diagnose and treat childhood diseases, the data will be analyzed to find genetic markers for conditions ranging from asthma and obesity to autism and schizophrenia.
The official title given for the achievement by Guinness World Records is “Fastest time to analyze 1,000 human genomes.” In the statement, Edico claims that by design, “DRAGEN's speed does not compromise accuracy.”
“The speed of this technology in processing vast amounts of raw data in a matter of minutes will allow us to deliver actionable results in hours,” Hakonarson said.