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 ( 1216 )
  • 分类:基因组学

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