• Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome

    6 days ago - By Springer

    Abstract
    Background
    Next-generation sequencing can identify mutations in the human genome that cause disease and has been widely adopted in clinical diagnosis. However, the human genome contains many polymorphic, low-complexity, and repetitive regions that are difficult to sequence and analyze. Despite their difficulty, these regions include many clinically important sequences that can inform the treatment of human diseases and improve the diagnostic yield of NGS.
    Results
    To evaluate the accuracy by which these difficult regions are analyzed with NGS, we built an in silico decoy...
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