A software to analyze and map CNV sites using sequencing read counts in segregating populations. What type of software? The program runs using Python 3.7, Jupyter Notebook, and a set of helper programs, or packages, that can be installed using Anaconda. These programs and packages are defined in each notebook. What is the input?

2015年2月3日 · We present the structure and properties of the CNV map, and discuss the impact of copy number variable regions (CNVRs) on genes and gene function.

2016年8月15日 · 以往CNV主要通过PCR或者CGH芯片等技术进行查找，现在由于二代测序的价格飞速下降，通过将二代测序产生的reads 回帖（map）到参考基因组上来检测CNV的流程和软件逐渐建立并且流行了起来。

We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8-9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent ...

我们从2006年开始使用CNV和CNV map这两个术语，但我们也承认“染色体不平衡”这一术语，这是50多年前创造出来的。 这一术语主要用于定义与表型异常相关的基因组剂量敏感区域。

2024年10月22日 · When automatically triggered, the new .cnv.map file is generated before any segmental filters are applied, to avoid nasty surprises when different filters are being applied to different analysis steps. It is put in the same directory and assigned the same prefix as the .cnv file, except when that might destroy existing data.

Provides the ability to create interaction maps, discover CNV map domains (edges), gene annotate interactions, and create interactive visualizations of these CNV interaction maps.

2006年11月23日 · Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the...

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2022年3月31日 · Provides the ability to create interaction maps, discover CNV map domains (edges), gene annotate interactions, and create interactive visualizations of these CNV interaction maps.