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Showing 1–5 of 5 results
Advanced filters: Author: Nava Ehsan Clear advanced filters

  • Here, the authors present the Pantry framework, which extracts features from RNA sequencing data and performs multimodal genetic analyses. This type of analysis can increase gene-trait associations identified compared to using only expression levels.

    • Daniel Munro
    • Nava Ehsan
    • Pejman Mohammadi
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-12

  • Genetic variants that influence gene expression play a major role in human phenotypic variability and disease susceptibility. Here, the authors introduce a computational method to estimate the regulatory effect size in genes with multiple conditionally independent regulatory variants.

    • Nava Ehsan
    • Bence M. Kotis
    • Pejman Mohammadi
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-10

  • To understand the contribution of variants to transcript expression regulation, long-read transcriptome data are generated from the GTEx resource, and a new software package to perform allele-specific analysis is developed.

    • Dafni A. Glinos
    • Garrett Garborcauskas
    • Beryl B. Cummings
    Research
    Nature
    Volume: 608, P: 353-359

  • Genome-wide association studies of COVID-19 have identified genetic loci affecting disease severity, but the mechanisms remain to be fully described. Here, the authors use genetically predicted transcriptome, splicing and proteome data to identify potential genes and pathways underlying COVID- 19 severity.

    • Gita A. Pathak
    • Kritika Singh
    • Nicholas Mancuso
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-11

  • Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transport and AMPAR currents.”

    • Vincenzo Salpietro
    • Christine L. Dixon
    • Henry Houlden
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16