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Showing 1–4 of 4 results
Advanced filters: Author: Natalie Telis Clear advanced filters

  • This study reports the depletion of young Neandertal and Denisovan introgressed SNPs from gene regulatory enhancers in modern human genomes, as well as an association of enhancer pleiotropy with both the magnitude of archaic SNP depletion and the degree of intolerance to new mutations.

    • Natalie Telis
    • Robin Aguilar
    • Kelley Harris
    Research
    Nature Ecology & Evolution
    Volume: 4, P: 1558-1566

  • The genetic contribution to risk of Diffuse Idiopathic Skeletal Hyperostosis has been unclear. Here, the authors find genetic variation associated with Diffuse Idiopathic Skeletal Hyperostosis, finding phenotypic and genetic association with increased bone mass throughout the skeletal system.

    • Anurag Sethi
    • J. Graham Ruby
    • Eugene Melamud
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-14

  • Wang M. et al. leverage machine learning analysis of UK Biobank DXA scans, revealing aging related changes in spinal curvature (both kyphosis and lordosis) associated with decreased muscle mass and bone density. Genome-wide association reveals genetic risk factors related to musculoskeletal function are associated with age-related spinal curvature.

    • Frances M. Wang
    • J. Graham Ruby
    • Eugene Melamud
    ResearchOpen Access
    Communications Medicine
    Volume: 5, P: 1-14

  • Schiabor Barrett et al evaluate variants in GCK, a gene associated with Monogenic Diabetes of the Young (MODY), in two population cohorts with healthcare records. They find that participants with pathogenic MODY and other glucose-elevating variants are at risk for Type 2 Diabetes (T2D) and those with T2D show secondary complications of T2D.

    • Kelly M. Schiabor Barrett
    • Natalie Telis
    • Elizabeth T. Cirulli
    ResearchOpen Access
    Communications Medicine
    Volume: 4, P: 1-12