Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-02-13

AUTHORS

Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder, Joseph D Buxbaum, Benjamin M Neale, Daniel G MacArthur, Dennis P Wall, Elise B Robinson, Mark J Daly

ABSTRACT

Mark Daly and colleagues use population reference samples to refine the role of de novo protein-truncating variants in neurodevelopmental disorders. They show that variants independently observed in population reference samples do not contribute substantively to neurodevelopmental risk, and they use a loss-of-function intolerance metric to identify a small subset of genes that contain the entire observed signal of associated de novo protein-truncating variants in these disorders. More... »

PAGES

504-510

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    4

    VOLUME

    49

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3789

    DOI

    http://dx.doi.org/10.1038/ng.3789

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1083800929

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28191890


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