重测序软件记录

Posted by 琼脂糖 on September 12, 2019

Mapping

bwa http://bio-bwa.sourceforge.net/bwa.shtml samtools http://www.htslib.org/doc/samtools-1.2.html


{config[bwa]} mem -M -t {threads} -R '@RG\tID:group1\tPL:illumina\tSM:{wildcards.sample}\tLB=lib1\tPU=unit1' {input.ref} {input.or1} {input.or2} | {config[samtools]} view -Sb - > {output.bam}

{config[samtools]} sort -@ {threads} -m 4G -O bam -o {output.sorted_bam} {output.bam}

{config[samtools]} index {output.sorted_bam}

第一步:输出长串M::mem_pestat 第二步:

报错吗:skip orientation RF as there are not enough pairs skip orientation RR as there are not enough pairs

SV软件

微信:一篇文章说清楚基因组结构性变异检测的方法

除了Pindel,Delly也是应用SR方法进行变异检测的软件,不过Pindel在早期千人基因组计划中用的最多,Delly是后起之秀,当然现在有代表性的工具还有不少,比如lumpy、SVseq2等。

delly

官方文档 用delly检测sv

make all,报错undefined reference to boost::program_options::*。gcc版本7.2.0 换版本后,make成功。

export OMP_NUM_THREADS=2

delly call -x hg19.excl -o delly.bcf -g hg19.fa input.bam

bcftools view delly.bcf > delly.vcf

-t DEL

breakdancer

在sv_caller.py中,如果选择breakdancer来分析,会报错

samtools view: writing to standard output failed: Broken pipe samtools view: error closing standard output : -1

报错脚本:

with open("breakdancer.cfg", 'w') as outfile:
    subprocess.Popen(['/local_data1/software/perl/perl-v5.28.0/bin/perl', '/local_data1/software/breakdancer/breakdancer-1.1.2/perl/bam2cfg.pl', '/local_data1/work/liyubing/test/01.mapping/sorted_reads_head_B.bam'], stdout=outfile.fileno())

但这个代码单独跑是没有问题的。在subprocess中就会报错。

root

wget https://root.cern/download/root_v6.18.02.Linux-centos7-x86_64-gcc4.8.tar.gz

tar -zxvf root_v6.18.02.Linux-centos7-x86_64-gcc4.8.tar.gz

解压为root文件夹

再修改$HOME/.bashrc,添加以下两行

export PATH=/Path/to/rootdir/bin:$PATH
export LD_LIBRARY_PATH=/Path/to/rootdir/lib:$LD_LIBRARY_PATH

注意:/Path/to/rootdir即上一步安装root包时压缩后root文件夹的位置,请用绝对路径!

cd root 
. bin/thisroot.sh

cnvnator

紧接着上面root的source进行。在同一个shell

git clone https://github.com/abyzovlab/CNVnator.git

cd CNVnator

ln -s /path/to/src/samtools samtools

make

make报错

在Makefile中LIBS行加上 -lcrypto -lssl override LIBS += -lz -lcrypto -lssl -lbz2 -lcurl -llzma -lreadline make

运行cnvnator报错

ERROR in cling::CIFactory::createCI(): cannot extract standard library include paths!

gcc版本更换后没有报错了

参考

  1. https://root.cern.ch/build-prerequisites