MUMmer + SVMU : CNVs

MUMmer + SVMU : CNVs












######################################
# MUMmer + SVMU :   CNVs
#######################################
########### SVMU to produce collinear blocks and insertions, deletions and CNVs.
##### 由于 lastz 太慢,因此多样本 批量运行
if [ -f lastz.cmds.sh ] ; then
 rm -f lastz.cmds.sh
fi
if [ -f svmu.cmds.sh ] ; then
 rm -f svmu.cmds.sh
fi
#批量产出命令
for query in An1 C24 Cvi Eri Kyo Ler Sha;do 
   ln -s ../04.snp_indel/$query.delta .
  echo "lastz ref.fa[multiple]  $query.fa[multiple] --chain --format=general:name1,strand1,start1,end1,name2,strand2,start2,end2 --ambiguous=iupac  > $query.lastz.txt 2> $query.lastz.log" >>lastz.cmds.sh
  echo "svmu $query.delta ref.fa $query.fa h $query.lastz.txt $query &> $query.svmu.log"  >> svmu.cmds.sh
done  
#批量运行
parallel -j 10 < lastz.cmds.sh
parallel -j 10 < svmu.cmds.sh
#SVMU 结果说明:
# sv.prefix.txt = A tab delimited file that summarizes structural mutations (indels, CNVs, inversions) in the sample genome with respect to the reference genome.  

# small.prefix.txt: A tab delimited file containing SNPs and small indels that occur within syntenic blocks (or MUMs).

# cnv_all.prefix.txt: A tab delimited file with all the reference genomic regions that are present in higher copy numbers (>1) in the sample genome. Those with "trans" in their names mean either it is a transposable element or non-TE copies of a gene in different chromosomes.

# cm.prefix.txt: A bed file with the reference genomic regions that are syntenic between the two genomes. 

########### CNV ################

samtools faidx ref.fa
for query in An1 C24 Cvi Eri Kyo Ler Sha;do
  grep CNV sv.${query}.txt | awk '$(NF-2)>50' | awk '$NF!=0&&$(NF-1)!=0&&$NF!="inf"&&$(NF-1)!="inf"' | awk '$NF/$(NF-1)>=2||$(NF-1)/$NF>=2' > sv.${query}.svmu_CNV.xls
  samtools faidx ${query}.fa
  rm sv.${query}.svmu_CNV.vcf
  echo -e "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\t${query}" >>sv.${query}.svmu_CNV.vcf
        cat sv.${query}.svmu_CNV.xls | while read n
        do
          chr=`echo $n | awk '{print $1}'`
          pos=`echo $n | awk '{print $2}'`
          ref_pos=`echo $n | awk '{if($2<=$3){print $1":"$2"-"$3}else{print $1":"$3"-"$2}}'`
          alt_pos=`echo $n | awk '{if($6<=$7){print $5":"$6"-"$7}else{print $5":"$7"-"$6}}'`
                ref_seq=`samtools faidx ref.fa $ref_pos | grep -v '>' | sed ':a;N;s/\n//g;ta'`
                alt_seq=`samtools faidx ${query}.fa $alt_pos | grep -v '>' | sed ':a;N;s/\n//g;ta'`
                echo -e "${chr}\t${pos}\tCNV\t${ref_seq}\t${alt_seq}\t30\tPASS\tSVTYPE=CNV\tGT\t1/1" >> sv.${query}.svmu_CNV.vcf
        done
done


  • 发表于 2023-08-28 11:47
  • 阅读 ( 1196 )
  • 分类:基因组学

你可能感兴趣的文章

相关问题

0 条评论

请先 登录 后评论
omicsgene
omicsgene

生物信息

698 篇文章

作家榜 »

  1. omicsgene 698 文章
  2. 安生水 347 文章
  3. Daitoue 167 文章
  4. 生物女学霸 120 文章
  5. xun 82 文章
  6. 红橙子 78 文章
  7. rzx 74 文章
  8. CORNERSTONE 72 文章