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Showing 1–6 of 6 results
Advanced filters: Author: Arushi Varshney Clear advanced filters

  • Mechanistic inference following GWAS is hampered by the lack of tissue-specific transcriptomic resources. Here the authors combine genetic variants predisposing to type 2 diabetes with human pancreatic islet RNA-seq data. They identify 7741 islet expression quantitative trait loci (eQTLs), providing a resource for functional interpretation of association signals mapping to non-coding sequence.

    • Ana Viñuela
    • Arushi Varshney
    • Mark I. McCarthy
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-14

  • A trans-ancestry meta-analysis of GWAS of glycemic traits in up to 281,416 individuals identifies 99 novel loci, of which one quarter was found due to the multi-ancestry approach, which also improves fine-mapping of credible variant sets.

    • Ji Chen
    • Cassandra N. Spracklen
    • Cornelia van Duijn
    Research
    Nature Genetics
    Volume: 53, P: 840-860

  • Integration of multiomics data with functional analysis of pancreatic tissues from individuals with early-stage type 2 diabetes indicates that the genetic risk converges on RFX6, which regulates chromatin architecture at multiple risk loci.

    • John T. Walker
    • Diane C. Saunders
    • Marcela Brissova
    Research
    Nature
    Volume: 624, P: 621-629

  • GATA2 regulatory mutations are associated with hereditary congenital facial paresis in humans. A genetically engineered mouse model recapitulates the human phenotype, showing altered neuron-specific Gata2 expression and a bias in formation of inner-ear efferent neurons over facial branchial motor neurons.

    • Alan P. Tenney
    • Silvio Alessandro Di Gioia
    • Elizabeth C. Engle
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 1149-1163

  • Interaction between transcription factors and chromatin is fundamental for genome organization and regulation. Here, the authors use information theory to measure signatures of organized chromatin resulting from transcription factor-chromatin interactions, termed chromatin information enrichment, and find that variations in the information encoded in chromatin architecture reflects functional biological variation.

    • Ricardo D’Oliveira Albanus
    • Yasuhiro Kyono
    • Stephen C. J. Parker
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-12