Twist CNV Backbone Spike-in Panels

エクソームシーケンスは、タンパク質コード領域や特定の関心領域を対象にシーケンスカバレッジを提供します。Typically, exome sequencing covers only about 1–2% of the genome. While this makes the analysis of an individual’s genetics more efficient than sequencing the whole genome, it excludes large regions between genes and other genetic elements from downstream analysis. This can make detecting copy number variations (CNVs), an important driver in many genetic diseases, difficult from exome sequencing alone, where probes are not regularly tiled.

TwistのCNVバックボーンスパイクインパネルは、CNVの解析解像度を高めることでエクソームシーケンスにCNV解析を簡単に追加する方法を提供します。

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