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'Unappreciated Variations'

What differentiates people from each other, genomically speaking? Is it our SNPs, our CNVs, our rearrangements? A new study published in Nature Biotechnology suggests that it's really "unappreciated variations in [the genome's] fundamental architecture," rather than single point-by-point mutations that really make up the differences between people, reports Wired's Brandon Keim. While SNPs are the most common variations and the most widely studied for their associations with disease, large-scale changes like duplications and reversals, or additions or omissions of long DNA sequences, are less studied, Keim says. The study's authors say that these longer sequences are more specific to individual people than SNPs are, and suggest that traditional genome sequencing techniques are too focused on short reads to show the whole picture. "It might seem counterintuitive that big changes have been harder to detect than small ones, but it’s a consequence of how genomes are read," Keim says. "Every method involves breaking long DNA sequences — the human genome contains three billion DNA pairs — into pieces, then trying to reassemble them. The methods vary according to fragment size and reassembly technique, but as a rule it’s far less expensive and time-intensive to use small fragments." But like a jigsaw puzzle, it would be easier to put the picture together if we were using larger pieces, he adds.

The Scan

Billions for Antivirals

The US is putting $3.2 billion toward a program to develop antivirals to treat COVID-19 in its early stages, the Wall Street Journal reports.

NFT of the Web

Tim Berners-Lee, who developed the World Wide Web, is auctioning its original source code as a non-fungible token, Reuters reports.

23andMe on the Nasdaq

23andMe's shares rose more than 20 percent following its merger with a special purpose acquisition company, as GenomeWeb has reported.

Science Papers Present GWAS of Brain Structure, System for Controlled Gene Transfer

In Science this week: genome-wide association study ties variants to white matter stricture in the brain, and more.