Bio

Education & Certifications


  • BS, University of Tokyo, Bioinformatics and Systems Biology (2016)

Research & Scholarship

Lab Affiliations


Publications

All Publications


  • Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study NATURE COMMUNICATIONS DeBoever, C., Tanigawa, Y., Lindholm, M. E., McInnes, G., Lavertu, A., Ingelsson, E., Chang, C., Ashley, E. A., Bustamante, C. D., Daly, M. J., Rivas, M. A. 2018; 9: 1612

    Abstract

    Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. Here, we characterize the effect of 18,228 protein-truncating variants across 135 phenotypes from the UK Biobank and find 27 associations between medical phenotypes and protein-truncating variants in genes outside the major histocompatibility complex. We perform phenome-wide analyses and directly measure the effect in homozygous carriers, commonly referred to as "human knockouts," across medical phenotypes for genes implicated as being protective against disease or associated with at least one phenotype in our study. We find several genes with strong pleiotropic or non-additive effects. Our results illustrate the importance of protein-truncating variants in a variety of diseases.

    View details for DOI 10.1038/s41467-018-03910-9

    View details for Web of Science ID 000430674000001

    View details for PubMedID 29691392

    View details for PubMedCentralID PMC5915386

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