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    The Identification and Interpretation of cis-Regulatory Noncoding Mutations in Cancer 
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    The Identification and Interpretation of cis-Regulatory Noncoding Mutations in Cancer

    Volume
    8
    Publisher
    MDPI
    Publisher URL
    https://doi.org/10.3390/ht8010001
    DOI
    10.3390/ht8010001
    Journal
    High Throughput
    Issue
    1
    ISSN
    2571-5135
    Metadata
    Show full item record
    Abstract
    In the need to characterise the genomic landscape of cancers and to establish novel biomarkers and therapeutic targets, studies have largely focused on the identification of driver mutations within the protein-coding gene regions, where the most pathogenic alterations are known to occur. However, the noncoding genome is significantly larger than its protein-coding counterpart, and evidence reveals that regulatory sequences also harbour functional mutations that significantly affect the regulation of genes and pathways implicated in cancer. Due to the sheer number of noncoding mutations (NCMs) and the limited knowledge of regulatory element functionality in cancer genomes, differentiating pathogenic mutations from background passenger noise is particularly challenging technically and computationally. Here we review various up-to-date high-throughput sequencing data/studies and in silico methods that can be employed to interrogate the noncoding genome. We aim to provide an overview of available data resources as well as computational and molecular techniques that can help and guide the search for functional NCMs in cancer genomes.
    Authors
    Patel, MB; Wang, J
    URI
    https://qmro.qmul.ac.uk/xmlui/handle/123456789/58879
    Collections
    • Centre for Molecular Oncology [234]
    Language
    eng
    Licence information
    This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
    Copyright statements
    © 2018 by the authors. Licensee MDPI, Basel, Switzerland.
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