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    Article

    Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease

    Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in...

    Ben Omega Petrazzini, Iain S. Forrest, Ghislain Rocheleau, Ha My T. Vy in Nature Genetics (2024)

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    Article

    Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications

    Studies have shown that drug targets with human genetic support are more likely to succeed in clinical trials. Hence, a tool integrating genetic evidence to prioritize drug target genes is beneficial for drug ...

    Áine Duffy, Ben Omega Petrazzini, David Stein, Joshua K. Park in Nature Genetics (2024)

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    Open Access

    A machine learning model identifies patients in need of autoimmune disease testing using electronic health records

    Systemic autoimmune rheumatic diseases (SARDs) can lead to irreversible damage if left untreated, yet these patients often endure long diagnostic journeys before being diagnosed and treated. Machine learning m...

    Iain S. Forrest, Ben O. Petrazzini, Áine Duffy, Joshua K. Park in Nature Communications (2023)

  4. Article

    Open Access

    A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank

    Phenome-wide association studies identified numerous loci associated with traits and diseases. To help interpret these associations, we constructed a phenome-wide network map of colocalized genes and phenotype...

    Ghislain Rocheleau, Iain S. Forrest, Áine Duffy, Shantanu Bafna in Communications Biology (2022)