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Showing 1–16 of 16 results
Advanced filters: Author: Todd M Preuss Clear advanced filters

  • A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

    • Sarah E. Graham
    • Shoa L. Clarke
    • Cristen J. Willer
    Research
    Nature
    Volume: 600, P: 675-679

  • Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • Erola Pairo-Castineira
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 607, P: 97-103

  • A trans-ancestry genome-wide association study of serum urate levels identifies 183 loci influencing this trait. Enrichment analyses, fine-mapping and colocalization with gene expression in 47 tissues implicate the kidney and liver as key target organs and prioritize potential causal genes.

    • Adrienne Tin
    • Jonathan Marten
    • Anna Köttgen
    Research
    Nature Genetics
    Volume: 51, P: 1459-1474

  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477

  • DNA methylation plays an important role in brain development and function. Here, the authors compare whole-genome methylation in neurons and oligodendrocytes in humans, chimpanzees and macaques to reconstruct evolution of DNA methylation at cell-type level, including in regions associated with schizophrenia heritability.

    • Hyeonsoo Jeong
    • Isabel Mendizabal
    • Soojin V. Yi
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-12

  • Several cortical association areas have rapidly expanded in size during human evolution, including elements of the central cognitive default mode network (DMN). Here, the authors show that genes highly divergent between humans and other primates (HAR genes) are particularly expressed in these brain regions.

    • Yongbin Wei
    • Siemon C. de Lange
    • Martijn P. van den Heuvel
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-11

  • The transcription factor FOXP2 is the only gene implicated in human speech, and yet it differs very little from the chimpanzee orthologue. Here, the two amino acids specific to humans are shown to alter FOXP2 function in vitro by conferring differential transcriptional regulation, and these observations are extended in vivo to human and chimpanzee brain. Together, these data identify transcriptional targets that may serve critical functions in language development.

    • Genevieve Konopka
    • Jamee M. Bomar
    • Daniel H. Geschwind
    Research
    Nature
    Volume: 462, P: 213-217