Craig Venter's team has deeply sequenced the genomes of some 10,500 people, as it reports in a preprint at bioRxiv. Each person was sequenced to a depth of between 30X and 40X coverage, and the team reported that 84 percent of an individual's genome could be sequenced with confidence — that region, it notes, included more than 95 percent known pathogenic variant loci.
The J. Craig Venter Institute and Human Longevity team also uncovered more than 150 million variants, more than half of which hadn't been previously seen. This works out to an average of 8,579 novel variants found per person. This and other data collected enabled the researchers to gauge how tolerant different regions of the genome are to genetic change. Intolerant sites, they noted, might be "essential for life or health."
Hudson Freeze from Sanford Burnham Prebys Medical Discovery Institute tells the San Diego Union-Tribune that this is the first study he knows of to have examined so many genomes of such quality. "This idea of taking more than 10,000 individual genomes and doing this — that takes a lot of guts," Freeze says. "It's going to be a guy like Craig Venter, who has the moxie, the finances and the know-how to get this done."
The University of California, San Francisco's Atul Butte also calls the work "impressive." He adds that the researchers' approach to looking at gene families when exploring patterns of genetic families was "innovative."
The San Diego Union-Tribune notes that Venter declined to speak about the work as it had not yet been through peer review.