The first human genome sequencing took 13 years and cost $3 billion. It can now be done in a matter of days, but drawing meaningful conclusions from millions of points of data is cumbersome. However, new software can do it in less than 90 minutes, according to a study published in Genome Biology.
Peter White, PhD, principal investigator and director of the Biomedical Genomics Core at Nationwide Children's Hospital in Columbus, Ohio, and the study's senior author, said the application for pediatric medicine and research could reduce disease in newborns and other genomic diseases.
The program, called Churchill, crosses servers and amasses data efficiently and accurately, meeting the National Institute of Standards and Technology benchmarks. Most of the other methods rely on one server and are much less efficient with resources. This could enable Churchill to take on population-size genome analysis projects. Using cloud-computing software through Amazon Web Services through a grant, the software was able to process 1,088 samples in seven days.
"Given that several population-scale genomic studies are underway, we believe that Churchill may be an optimal approach to tackle the data analysis challenges these studies are presenting," Dr. White said.
The Churchill algorithm was licensed to GenomeNextLLC, a Columbus, Ohio-based genomics informatics company, and the technology was designed as a software-as-a-service program. It will allow users to upload the information they need sequenced to the GenomeNext system, which then analyzes it.