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    Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

    Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability by Farah R. Zahir (18892108)

    Published 2017
    “…The <i>de novo</i> assembly resulted in unmasking hidden genome instability that was missed by standard re-alignment based algorithms. We also interrogated regulatory sequence variation for known and hypothesized ID genes and present useful strategies for WGS data analyses for non-coding variation.…”
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