Publications by authors named "Vanessa L Bauer"

Article Synopsis
  • * We discovered over 1.3 million lineage-specific structural variants (SVs) that impact thousands of protein-coding genes and regulatory elements, revealing significant genomic differences among primates, especially compared to humans.
  • * Our research identified 1,607 regions with structural variations that are hotspots for gene loss and creation, indicating areas in the genome subject to rapid evolution and natural selection across primate species.
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Simian immunodeficiency viruses (SIVs) comprise a large group of primate lentiviruses that endemically infect African monkeys. HIV-1 spilled over to humans from this viral reservoir, but the spillover did not occur directly from monkeys to humans. Instead, a key event was the introduction of SIVs into great apes, which then set the stage for infection of humans.

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To better understand the pattern of primate genome structural variation, we sequenced and assembled using multiple long-read sequencing technologies the genomes of eight nonhuman primate species, including New World monkeys (owl monkey and marmoset), Old World monkey (macaque), Asian apes (orangutan and gibbon), and African ape lineages (gorilla, bonobo, and chimpanzee). Compared to the human genome, we identified 1,338,997 lineage-specific fixed structural variants (SVs) disrupting 1,561 protein-coding genes and 136,932 regulatory elements, including the most complete set of human-specific fixed differences. Across 50 million years of primate evolution, we estimate that 819.

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Article Synopsis
  • The COVID-19 pandemic, caused by SARS-CoV-2, has resulted in over 6 million deaths, with high variability in symptoms linked to genetic and environmental factors.
  • Researchers studied the ACE2 gene, which encodes the cell entry receptor for the virus, to see how its variations (polymorphisms) affect infection rates and symptom severity.
  • Certain ACE2 variants increased the risk of severe COVID-19 by promoting infection, while others appeared to offer protection, particularly in Asian populations, potentially explaining lower mortality rates there.
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