"VAAST" software could spot disease genes

Forbes' Matthew Herper reported that National Human Genome Research Institute recently posted a graphic on Twitter that shows the cost of whole genome sequencing has been falling at a greater pace than data processing since 2008. Yet it's no mistake that his piece, written from the Biology of Genomes meeting on Long Island, followed this insight about the dramatic fall in sequencing prices with some details about a new genome analysis software program called VAAST that "can automate finding disease genes."

The software appears to take some of the heavy human lifting out of the search for disease genes in the vast genome. Mark Yandell, an associate professor of human genetics at the University of Utah, has been developing the software and presented it during the Biology of Genomes meeting at Cold Spring Harbor Laboratory. Omicia, an Emeryville, CA-based firm, has been working with Yandell to commercialize the software for use in a service to identify disease genes, according to the Forbes piece.

"To go from something like sequencing, to be able to say, this kid is sick because of this, it's almost too real," Yandell said, as quoted by Herper.

DNA sequencing has become increasingly fast and cheap-advancing even faster than Moore's Law, we now know from Herper's piece. To reap some of the rewards of high-speed sequencing, however, we need to get better at analyzing the genome to make it more useful in treating patients. There are companies that will sequence a human genome for less than the cost of a family trip to Orlando (sequencing powerhouse Illumina ($ILMN) said over the past week that its price per sequenced genome for research customers was down to $4,000). Yet the average person might be disappointed about how little they can now learn from the data.

Indeed, there are multiple efforts to use information technologies to streamline the process of linking data in the genome to clinically relevant insights. Kevin Davies wrote a good story on such efforts last year for Bio-IT World, in which he described how mathematician Peter Tonellato of the University of Wisconsin-Milwaukee and others have been working on brining data from the genome into the hands of clinicians with new software.

- read Herpers' blog post