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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

Alzheimer's Risk Gene Among Women

CNN reports that researchers have found that variants in MGMT contribute to Alzheimer's disease risk among women but not men.

Still Hanging Around

The Guardian writes that persistent pockets of SARS-CoV-2 in the body could contribute to long COVID.

Through a Little Spit

Enteric viruses like norovirus may also be transmitted through saliva, not just the fecal-oral route, according to New Scientist.

Nature Papers Present Method to Detect Full Transcriptome, Viruses Infecting Asgard Archaea, More

In Nature this week: VASA-seq approach to detect full transcriptome, analysis of viruses infecting Asgard archaea, and more.