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Mind the Gaps

Joy Yang, a post-bac fellow at the US National Human Genome Research Institute, dubs Daniel MacArthur et al.'s "systematic survey of loss-of-function variants in human protein-coding genes" — recently published in Science — the "genome advance of the month." Yang says the results of MacArthur and his colleague's study, which drew on 1,000 Genomes Project data, were somewhat surprising. "The researchers estimate that genomes of healthy individuals each contain about 100 LoF [loss-of-function] variants, and approximately 20 of these genes are completely inactivated. How can a person carry so many LoF variants and still be healthy?" she asks.

MacArthur tells Yang those results surprised his team, too. "It certainly came as a surprise to see so many loss-of-function variants remaining in a 'typical' genome even after applying such stringent filters," MacAArthur says. "It's a useful reminder that the human genome isn't static; there are many genes that are present in some people and knocked out in others, including some that will eventually disappear from the human population altogether."

Overall, NHGRI's Yang says, this study on loss-of-function variants "shows just how many gaps remain in understanding genome biology."

The Scan

Could Cost Billions

NBC News reports that the new Alzheimer's disease drug from Biogen could cost Medicare in the US billions of dollars.

Not Quite Sent

The Biden Administration likely won't meet its goal of sending 80 million SARS-CoV-2 vaccine doses abroad by the end of the month, according to the Washington Post.

DTC Regulation Proposals

A new report calls on UK policymakers to review direct-to-consumer genetic testing regulations, the Independent reports.

PNAS Papers on Mosquito MicroRNAs, Acute Kidney Injury, Trichothiodystrophy

In PNAS this week: microRNAs involved in Aedes aegypti reproduction, proximal tubule cell response to kidney injury, and more.