Twist CNV 骨架加标组合

外显子组测序可覆盖蛋白质编码靶标和其他特定目标区域。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 的 CNV 骨架加标组合通过提高 CNV 检出的分辨率,提供了一种将 CNV 分析添加到外显子组测序中的简单方法。

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