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Showing 1–2 of 2 results
Advanced filters: Author: Samuel Sungil Kim Clear advanced filters

  • Deep learning models have shown great promise in predicting regulatory effects from DNA sequence. Here the authors evaluate sequence-based epigenomic deep learning models and conclude that these models are not yet ready to inform our knowledge of human disease.

    • Kushal K. Dey
    • Bryce van de Geijn
    • Alkes L. Price
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-9

  • Pathogenicity scores are instrumental in prioritizing variants for Mendelian disease, yet their application to common disease is largely unexplored. Here, the authors assess the utility of pathogenicity scores for 41 complex traits and develop a framework to improve their informativeness for common disease.

    • Samuel S. Kim
    • Kushal K. Dey
    • Alkes L. Price
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-15