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    brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets

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    4
    Author
    Freytag, S; Burgess, R; Oliver, KL; Bahlo, M
    Date
    2017-06-08
    Source Title
    Genome Medicine: medicine in the post-genomic era
    Publisher
    BMC
    University of Melbourne Author/s
    Freytag, Saskia; Bahlo, Melanie; Broderick, Karen; Burgess, Rosemary
    Affiliation
    Medicine and Radiology
    School of Mathematics and Statistics
    Medical Biology (W.E.H.I.)
    Metadata
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    Document Type
    Journal Article
    Citations
    Freytag, S., Burgess, R., Oliver, K. L. & Bahlo, M. (2017). brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets. GENOME MEDICINE, 9 (1), https://doi.org/10.1186/s13073-017-0444-y.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/259554
    DOI
    10.1186/s13073-017-0444-y
    Abstract
    BACKGROUND: The pathogenesis of neurological and mental health disorders often involves multiple genes, complex interactions, as well as brain- and development-specific biological mechanisms. These characteristics make identification of disease genes for such disorders challenging, as conventional prioritisation tools are not specifically tailored to deal with the complexity of the human brain. Thus, we developed a novel web-application-brain-coX-that offers gene prioritisation with accompanying visualisations based on seven gene expression datasets in the post-mortem human brain, the largest such resource ever assembled. RESULTS: We tested whether our tool can correctly prioritise known genes from 37 brain-specific KEGG pathways and 17 psychiatric conditions. We achieved average sensitivity of nearly 50%, at the same time reaching a specificity of approximately 75%. We also compared brain-coX's performance to that of its main competitors, Endeavour and ToppGene, focusing on the ability to discover novel associations. Using a subset of the curated SFARI autism gene collection we show that brain-coX's prioritisations are most similar to SFARI's own curated gene classifications. CONCLUSIONS: brain-coX is the first prioritisation and visualisation web-tool targeted to the human brain and can be freely accessed via http://shiny.bioinf.wehi.edu.au/freytag.s/ .

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