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README.md

高置信位点整合Part2——从VCF和BAM文件中提取突变位点的信息

Author: Run Luyao

E-mail:18110700050@fudan.edu.cn

Git: http://choppy.3steps.cn/renluyao/HCC_Extract_Info.git

Last Updates: 11/9/2019

安装指南

# 激活choppy环境
source activate choppy
# 安装app
choppy install renluyao/HCC_Extract_Info

App概述

当我们拿到测序结果的时候,没有办法判断哪些是真的突变位点,哪些是假阳性

流程与参数

两个问题:

  1. MNP
  2. merge之后的pos相同,但是ref和alt不同

是不是gatk的问题,尝试用bcftools norm

App输入变量与输入文件

App输出文件

结果展示与解读

CHANGELOG

FAQ