2020年4月2日 · Reliable detection of copy-number variation (CNV) from read-depth ("coverage" or "counts") data such as whole exome sequencing (WES), whole genome sequencing …

1.WGS的CNV分析不需要my_baits.bed，但是需要可访问区域access.bed，由cnvkit.py access获取； 2.WES的CNV分析需要提供my_baits.bed，BED文件为目标捕获试剂盒的捕获基因组区 …

2018年9月26日 · Due to the extremely high level of systemic bias in WES data, normalization is crucial in WES CNV calling. CODEX’s multi-sample normalization model takes as input the …

2024年12月24日 · By accurately identifying the exact positions of bait coordinates, our model enables precise normalization of GC bias across target regions, thereby allowing better CNV …

To mitigate the effects of experimental bias and improve RD-based CNV detection, we developed a novel statistical method called GENSENG. The unique feature of GENSENG is to integrate …

2022年8月1日 · ADM-CNV considers CNV detection as a quadratic optimization problem and accurately extracts the signal from NGS data by adding sparse and smoothing constraints …

Comparisons of boundary bias between CNV-PCC and five methods (CNVnator, FREEC, Delly, CNV-LOF, and CNV_IFTV). Collectively, CNV-PCC shows the highest sensitivity and F1 …

2022年1月25日 · 检测CNV之前一般会有质控，去除一些bias较大的区间，比如考虑区间覆盖度，样本整体覆盖情况，GC含量极端区间等。 5. 数据降噪方法常见 PCA、SVD（一般去除前k …

We have shown that CNV inference based on the Joint-model, which includes information about Mendelian inheritance, can introduce a differential bias in CNV calls between parents and …

2015年3月17日 · We developed GROM-RD, an algorithm that analyzes multiple biases in read coverage to detect CNVs in NGS data. We found non-uniform variance across distinct GC …