CNV检测-CNVKit

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原文链接: CNVkit Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing-annotated
cnvkit.readthedocs
原理介绍PPT
CNVKit若干算法问题详解

检测原理在上述文献、PPT中已经有相对详细的介绍,此处不再进行展开。针对目前一些可视化的需求,补充记录一些关于CNVKit结果展示的相关功能和使用方法。

可视化

CNVKit提供了比较详细的可视化模块
三种可视化的主体绘图命令如下:

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cnvkit.py scatter -h
cnvkit.py diagram -h
cnvkit.py heatmap -h

scatter

说明

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cnvkit.py scatter Sample.cnr -s Sample.cns

image

扩展参数

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python cnvkit.py scatter Sample.cnr 
-s Sample.cns
-c chr7 # 指定参考基因组,可以进一步细化指定具体范围chr5:100-50000000
-g BRAF,MET # 指定展示的基因,多个基因使用逗号(",")分隔
-v Sample.vcf #
```
### 示例

/jdfstj1/B2C_COM_P1/PipeAdmin/02.software/Conda/bin/python /jdfstj1/B2C_COM_P1/PipeAdmin/04.Pipeline/01.AIO.v2.01/bin/cnvkit.py scatter ../Analyze/cnv/pancancer689__DX1790_huangrenhua_20S8320498R_20B8320498__Cancer.markdup.cnr -s ../Analyze/cnv/pancancer689__DX1790_huangrenhua_20S8320498R_20B8320498__Cancer.markdup.cns -c chr3:150000000-220000000 -g EIF4A2,TIPARP,TP63

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![image](Software-CNV检测-CNVKit/demo_test1.jpg)

## diagram
```shell
python cnvkit.py diagram Sample.cnr
-s Sample.cns
-t 2 # 对判定为CNV的阈值进行调整(仅达到阈值的基因会进行单独展示)

image

异常处理记录

Qt载入失败

  • 具体报错示例如下:

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    Reinstalling the application may fix this problem.
    Showing 918 probes and 1 selected genes in region chr15
    This application failed to start because it could not find or load the Qt platform plugin "xcb"
    in "".

    Available platform plugins are: eglfs, minimal, minimalegl, offscreen, xcb.

    Reinstalling the application may fix this problem.
  • 处理解决方案

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