Peter White at Nationwide Children’s Hospital has developed Churchill, software that searches raw sequence data on a person’s genome for disease-causing variations in hours, not weeks. He believes that large scale analysis across populations is now possible.
In tests, Churchill analyzed a whole genome sequence in 90 minutes from a raw FASTQ text-based format through to identifying variant cells at high confidence. An exome, which contains the bulk of disease causing variants, can be analyzed in one hour.
Advancing sequencing technologies can make genomic medicine possible. The Churchill algorithm has been licensed to GenomeNext for commercialization.
Wearable Tech + Digital Health NYC 2015 – June 30, 2015 @ New York Academy of Sciences