A new software created by scientists can now do it in hours.
Investigators at Nationwide Children's hospital have developed a software that slashes the time it takes to search a person's genome for disease-causing variations from weeks to hours - faster than all other available technologies.
Scientists have developed a computational pipeline called Churchill which allows efficient analysis of a whole genome sample in as little as 90 minutes.
Churchill has completed analysis of 1,088 whole genome samples in seven days and identified millions of new genetics variants.
Peter White, director of the biomedical genomics core and the study's senior author said, "Now, even the smallest research groups can complete genomic sequencing in a matter of days. However, once you've generated all that data, that's the point where many groups hit a wall. After a genome is sequenced, scientists are left with billions of data points to analyse before any truly useful information can be gleaned for use in research and clinical settings."
"Churchill fully automates the analytical process required to take raw sequence data through a series of complex and computationally intensive processes, ultimately producing a list of genetic variants ready for clinical interpretation and tertiary analysis," Dr White explains.
"Each step in the process was optimized to significantly reduce analysis time, without sacrificing data integrity, resulting in an analysis method that is 100 percent reproducible."
The output of Churchill was validated using National Institute of Standards and Technology (NIST) benchmarks. In comparison with other computational pipelines, Churchill was shown to have the highest sensitivity at 99.7%; highest accuracy at 99.99% and the highest overall diagnostic effectiveness at 99.66%.
"Rapid diagnosis of monogenic disease can be critical in new-borns, so our initial focus was to create an analysis pipeline that was extremely fast, but didn't sacrifice clinical diagnostic standards of reproducibility and accuracy," says Dr White. "Having achieved that, we discovered that a secondary benefit of Churchill was that it could be adapted for population scale genomic analysis."
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