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Science Papers Explore Diverse Human Genomes, Data-Sharing Views, More

An analysis of nearly 1,000 diverse genomes presented in Science this week reveals new details about human genetic variation and population history. A multi-institute team led by scientists from the Wellcome Sanger Institute examined 929 high-coverage genome sequences from 54 diverse human populations, 26 of which were physically phased using linked-read sequencing. Among their findings are an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, though an absence of such variants fixed between major geographical regions. The team urges continued sequencing of diverse human genomes and calls the production of high-coverage genome sequences for at least 10 individuals from each of the roughly 7,000 human linguistic groups an achievement that would "represent a scientifically and culturally important step toward diversity and inclusion in human genomics research." GenomeWeb has more on this, here.

The National Institutes of Health should take a strong stance on data sharing "if we are to collectively achieve a long-standing vision of open science built on the principles of findable, accessible, interoperable, and reusable data sharing," the University of California, San Francisco's Ida Sim and colleagues write in a Policy Forum piece in Science this week. The agency recently solicited public comments on a draft data sharing policy that is "generally supportive of data sharing," but falls short of what is needed, the authors write. The NIH should start mandating data sharing so that, once it becomes the norm, "researchers and the general public will benefit, and in turn, sharing will itself become an incentive."

A genome-wide association meta-analysis of brain magnetic resonance imaging data from over 50,000 people provides a new view of the genetic architecture of the human cerebral cortex. As reported in Science, scientists from Australia's QIMR Berghofer Medical Research Institute and colleagues from various international organizations used the data to analyze the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. They identify 199 significant loci and find significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity, they write. Meanwhile, variation in cortical structure is found to be genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder. GenomeWeb also covers this, here.