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    Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

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    Author
    Gussow, AB; Copeland, BR; Dhindsa, RS; Wang, Q; Petrovski, SA; Majoros, WH; Allen, AS; Goldstein, DB
    Date
    2017-08-10
    Source Title
    PLoS One
    Publisher
    PUBLIC LIBRARY SCIENCE
    University of Melbourne Author/s
    Petrovski, Slave
    Affiliation
    Medicine and Radiology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Gussow, A. B., Copeland, B. R., Dhindsa, R. S., Wang, Q., Petrovski, S. A., Majoros, W. H., Allen, A. S. & Goldstein, D. B. (2017). Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics. PLOS ONE, 12 (8), https://doi.org/10.1371/journal.pone.0181604.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/256867
    DOI
    10.1371/journal.pone.0181604
    Abstract
    There is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which portions of non-coding sequence are important in the context of human disease. Here, we present Orion, an approach that detects regions of the non-coding genome that are depleted of variation, suggesting that the regions are intolerant of mutations and subject to purifying selection in the human lineage. We show that Orion is highly correlated with known intolerant regions as well as regions that harbor putatively pathogenic variation. This approach provides a mechanism to identify pathogenic variation in the human non-coding genome and will have immediate utility in the diagnostic interpretation of patient genomes and in large case control studies using whole-genome sequences.

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