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Diving in Deep

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.

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.