Mercurial > repos > biomonika > linkyx
diff A.sh @ 0:1955f03f092e
initial commit
| author | biomonika <biomonika@psu.edu> |
|---|---|
| date | Tue, 02 Sep 2014 14:16:04 -0400 |
| parents | |
| children |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/A.sh Tue Sep 02 14:16:04 2014 -0400 @@ -0,0 +1,242 @@ +#!/bin/bash +set -e; +email_address_of_user=$1; +echo "email: " $email_address_of_user; + +newline () { + echo -e "\n---"; +} +#variables +mother_contigs=`cat references/reference_contig_names | wc -l`; +echo -e "A variant"; newline; dir=A/; mkdir -p $dir; + +#DAUGHTER PREPARE FILES + + grep -E '#|AF1=0.' vcf/aln_0.85_daughter.vcf | cut -f1 | uniq >${dir}daughter_on_mother_one_allele_heterozygous_ids.vcf + perl -MFile::Slurp -ne 'BEGIN{@a{split(/\s/,read_file("A/daughter_on_mother_one_allele_heterozygous_ids.vcf"))}=()}; $b=$_; @data = split(/\s/, $b); $res=$data[0]; print if exists $a{$res}' vcf/aln_0.85_daughter.vcf | sort | uniq | sed '/#/d' >${dir}daughter_on_mother_heterozygous.vcf + + #be aware that if there are more snps, one with allele frequency '0.' is enough for the whole contig to be in contig_pos_ref_heterozygous + sed '/#/d' ${dir}daughter_on_mother_heterozygous.vcf | perl -pe 's/(comp\S+)\t(\d+)\t\.\t(\S+)\t(\S+).+/$1\t$2\t$3\t$4/' | sort >${dir}contig_pos_ref_alt_daughter_heterozygous + cut -f 1 ${dir}contig_pos_ref_alt_daughter_heterozygous | sort | uniq >${dir}contigs_where_daughter_heterozygous + + sed '/#/d' vcf/aln_0.85_daughter.vcf | perl -pe 's/(comp\S+)\t(\d+)\t\.\t(\S+)\t(\S+).+/$1\t$2\t$3\t$4/' | sort >${dir}contig_pos_ref_alt_daughter + +#FATHER PREPARE FILES + + sed '/#/d' vcf/aln_0.85_father.vcf | perl -pe 's/(comp\S+)\t(\d+)\t\.\t(\S+)\t(\S+).+/$1\t$2\t$3\t$4/' | sort >${dir}contig_pos_ref_alt_father + +#SON PREPARE FILES + + sed '/#/d' vcf/aln_0.85_son.vcf | perl -pe 's/(comp\S+)\t(\d+)\t\.\t(\S+)\t(\S+).+/$1\t$2\t$3\t$4/' | sort >${dir}contig_pos_ref_alt_son + + +echo -e "Step 0 of 3.\nMother must be homozygote."; + sed '/#/d' vcf/aln_0.85_mother.vcf | cut -f1 | sort | uniq >${dir}contigs_where_mother_differs_from_mother; + differing=`cat ${dir}contigs_where_mother_differs_from_mother | wc -l`; + + perl -MFile::Slurp -ne 'BEGIN{@a{split(/\s/,read_file("A/contigs_where_mother_differs_from_mother"))}=()}; $b=$_; @data = split(/\s/, $b); $res=$data[0]; print if !exists $a{$res}' references/reference_contig_names | sort | uniq >${dir}contigs_where_mother_same_as_mother_unchecked + + #check whether mother really does not contain any father variants + wrong_hits=0; + cat ${dir}contigs_where_mother_same_as_mother_unchecked | (while read line; do + contig_check=`./scripts/test.sh ${line} 4 ${dir}contig_pos_ref_alt_father bam/aln_cleaned_sorted_deduplicated_mother.bam A` + if [[ $contig_check -gt 0 ]]; then + echo "contig: " ${line} "contig_check:" $contig_check >>kontrola; + echo "DID NOT PASS "${line}; + wrong_hits=`expr $wrong_hits + 1` + else + #echo "0K"; + echo ${line} >>${dir}contigs_where_mother_same_as_mother + fi + done; + echo "There is this number of wrong variants: "$wrong_hits; + ) + + same=`cat ${dir}contigs_where_mother_same_as_mother | wc -l`; + echo -e "Number of contigs, where mother differs: $differing."; + echo -e "NUMBER of contigs AFTER just this filter: $same/$mother_contigs"; + + newline; + +echo -e "Step 1 of 3.\nSons must be same as mother."; + #First we have to get rid of the intersection with father, possible Y variants do not matter in the calculation + comm -12 ${dir}contig_pos_ref_alt_son ${dir}contig_pos_ref_alt_father | sort | uniq >${dir}possible_Yvariants + cut -f 1 ${dir}possible_Yvariants | sort | uniq >${dir}contigs_with_possible_Yvariants + + #if these possible_Yvariants are in the daughter, they are not Y variants + comm -12 ${dir}contig_pos_ref_alt_daughter ${dir}possible_Yvariants | sort | uniq >${dir}NOT_Yvariants + cut -f 1 ${dir}NOT_Yvariants | sort | uniq >${dir}contigs_with_NOT_Yvariants + + perl -MFile::Slurp -ne 'BEGIN{@a{split(/\s/,read_file("A/contigs_with_NOT_Yvariants"))}=()}; $b=$_; @data = split(/\s/, $b); $res=$data[0]; print if !exists $a{$res}' ${dir}contigs_with_possible_Yvariants | sort | uniq >${dir}contigs_with_Yvariants + + #contig_pos_ref_alt_Yvariants_confirmed; we deplet just those contigs that contain Y variants and then decide if sons are same as mother + +cat ${dir}contigs_with_Yvariants | (while read line; do + grep ${line} ${dir}contig_pos_ref_alt_father | sort >>${dir}contig_pos_ref_alt_Yvariants_confirmed_pro +done; +) + cat ${dir}contig_pos_ref_alt_Yvariants_confirmed_pro | sort >${dir}contig_pos_ref_alt_Yvariants_confirmed; + + comm -23 ${dir}contig_pos_ref_alt_son ${dir}contig_pos_ref_alt_Yvariants_confirmed | cut -f 1 | sort | uniq >${dir}contigs_where_sons_variation_not_caused_by_father + #rm ${dir}contig_pos_ref_alt_Yvariants_confirmed_pro; + + perl -MFile::Slurp -ne 'BEGIN{@a{split(/\s/,read_file("A/contigs_where_sons_variation_not_caused_by_father"))}=()}; $b=$_; @data = split(/\s/, $b); $res=$data[0]; print if !exists $a{$res}' references/reference_contig_names | sort | uniq >${dir}contigs_where_sons_same_as_mother + + same=`cat ${dir}contigs_where_sons_same_as_mother | wc -l`; + echo -e "Number of contigs, where sons differ: $differing."; + echo -e "NUMBER of contigs AFTER just this filter: $same/$mother_contigs"; + + + newline; +echo -e "Step 2 of 3.\nFather must differ from mother."; + sed '/#/d' vcf/aln_0.85_father.vcf | cut -f1 | sort | uniq >${dir}/contigs_where_father_differs_from_mother; + differing=`cat ${dir}contigs_where_father_differs_from_mother | wc -l`; + echo -e "NUMBER of contigs AFTER just this filter: $differing/$mother_contigs"; + + newline; + +echo -e "Step 3 of 3.\nDaughter must have mother and father alleles."; + #we need daughter to have alleles from both parents (AF stands for 'allele frequency') + + #unique lines in first file mean that those are not subsets of father variants - otherwise they would be in common + comm -23 ${dir}contig_pos_ref_alt_daughter_heterozygous ${dir}contig_pos_ref_alt_father | cut -f 1 | sort | uniq >${dir}daughter_NOT_subset_of_father + + perl -MFile::Slurp -ne 'BEGIN{@a{split(/\s/,read_file("A/daughter_NOT_subset_of_father"))}=()}; $b=$_; @data = split(/\s/, $b); $res=$data[0]; print if !exists $a{$res}' ${dir}contigs_where_daughter_heterozygous | sort | uniq >${dir}/contigs_where_daughter_from_parents + + +same=`cat ${dir}contigs_where_daughter_from_parents | wc -l`; + echo -e "NUMBER of contigs AFTER just this filter: $same/$mother_contigs"; + + newline; + +echo -e "Step 4 of 3.\nDaughters and sons can not have any intersection."; + comm -12 ${dir}contig_pos_ref_alt_daughter ${dir}contig_pos_ref_alt_son >${dir}sons_and_daughters_similiar + cut -f 1 ${dir}sons_and_daughters_similiar | sort | uniq >${dir}contigs_where_sons_and_daughters_similiar + + perl -MFile::Slurp -ne 'BEGIN{@a{split(/\s/,read_file("A/contigs_where_sons_and_daughters_similiar"))}=()}; $b=$_; @data = split(/\s/, $b); $res=$data[0]; print if !exists $a{$res}' ${dir}contigs_where_daughter_heterozygous | sort | uniq >${dir}contigs_where_daughters_and_sons_different_pro + + #check whether they are really different (small amount of variants is also wrong) + + echo -e "daughter contains son variants?" + #check whether daughter really does not contain any of son variants + wrong_hits=0; + cat ${dir}contigs_where_daughters_and_sons_different_pro | (while read line; do + contig_check=`./scripts/test.sh ${line} 4 ${dir}contig_pos_ref_alt_daughter bam/aln_cleaned_sorted_deduplicated_son.bam A` + if [[ $contig_check -gt 0 ]]; then + echo "DID NOT PASS "${line}; + echo "daughter contains son variants DID NOT PASS "${line} >>kontrola + wrong_hits=`expr $wrong_hits + 1` + else + #echo "0K"; + echo ${line} >>${dir}contigs_where_daughters_and_sons_different_un1 + fi + done; + echo "There is this number of wrong variants: "$wrong_hits; + ) + + echo -e "son contains daughter variants?" + #check whether son really does not contain any of daughter variants + wrong_hits=0; + cat ${dir}contigs_where_daughters_and_sons_different_pro | (while read line; do + contig_check=`./scripts/test.sh ${line} 4 ${dir}contig_pos_ref_alt_son bam/aln_cleaned_sorted_deduplicated_daughter.bam A` + if [[ $contig_check -gt 0 ]]; then + echo "DID NOT PASS "${line}; + echo "son contains daughter variants DID NOT PASS "${line} >>kontrola + wrong_hits=`expr $wrong_hits + 1` + else + #echo "0K"; + echo ${line} >>${dir}contigs_where_daughters_and_sons_different_un2 + fi + done; + echo "There is this number of wrong variants: "$wrong_hits; + ) + + comm -12 ${dir}contigs_where_daughters_and_sons_different_un1 ${dir}contigs_where_daughters_and_sons_different_un2 | sort >${dir}contigs_where_daughters_and_sons_different_un + + cat ${dir}contigs_where_daughters_and_sons_different_un | sort | uniq >${dir}contigs_where_daughters_and_sons_different; + +#rm ${dir}contigs_where_daughters_and_sons_different_un1 ${dir}contigs_where_daughters_and_sons_different_un2 ${dir}contigs_where_daughters_and_sons_different_un; + + same=`cat ${dir}contigs_where_daughters_and_sons_different | wc -l`; + echo -e "NUMBER of contigs AFTER just this filter: $same/$mother_contigs"; + +echo -e "Calculating intersection of candidate contigs from steps 0-3."; + + comm -12 ${dir}contigs_where_mother_same_as_mother ${dir}contigs_where_sons_same_as_mother | sort >${dir}first_couple; + comm -12 ${dir}contigs_where_father_differs_from_mother ${dir}contigs_where_daughter_from_parents | sort >${dir}second_couple; + comm -12 ${dir}first_couple ${dir}second_couple | sort >${dir}set1 + comm -12 ${dir}contigs_where_daughters_and_sons_different ${dir}set1 | sort >${dir}set2; + +echo -e "Step -1 of 3.\nCoverage must be sufficient."; + touch ${dir}contigs_with_sufficient_coverage; + +cat ${dir}set2 | (while read line; do + + coverage_check1=`./scripts/get_average_contig_coverage.sh 0.75 ${line} bam/aln_cleaned_sorted_deduplicated_mother.bam 2>/dev/null &`; + coverage_check2=`./scripts/get_average_contig_coverage.sh 0.75 ${line} bam/aln_cleaned_sorted_deduplicated_father.bam 2>/dev/null &`; + coverage_check3=`./scripts/get_average_contig_coverage.sh 0.75 ${line} bam/aln_cleaned_sorted_deduplicated_son.bam 2>/dev/null &`; + coverage_check4=`./scripts/get_average_contig_coverage.sh 0.75 ${line} bam/aln_cleaned_sorted_deduplicated_daughter.bam 2>/dev/null &`; + + coverage_check=$(($coverage_check1 + $coverage_check2 + $coverage_check3 + $coverage_check4)) + if [[ $coverage_check -gt 0 ]]; then + echo "LOW COVERAGE "${line}; + else + #echo "0K"; + echo ${line} >>${dir}contigs_with_sufficient_coverage + fi +done; +) + + + cat ${dir}contigs_with_sufficient_coverage | sort >X_results.txt; + #rm ${dir}first_couple; #rm ${dir}second_couple; #rm ${dir}set1; #rm ${dir}set2; + + #have we found any genes? + + final_contigs=`cat X_results.txt | wc -l`; + echo -e "$final_contigs contigs found fulfilling criteria."; + + + if [ $final_contigs -gt 0 ]; then + #we found SOME genes + + #prepare files for sorting into the categories + samtools view -bq 1 bam/aln_cleaned_sorted_deduplicated_mother.bam >${dir}high_score_mother.bam & + samtools view -bq 1 bam/aln_cleaned_sorted_deduplicated_father.bam >${dir}high_score_father.bam & + samtools view -bq 1 bam/aln_cleaned_sorted_deduplicated_daughter.bam >${dir}high_score_daughter.bam & + samtools view -bq 1 bam/aln_cleaned_sorted_deduplicated_son.bam >${dir}high_score_son.bam & + wait; + + samtools index ${dir}high_score_mother.bam & + samtools index ${dir}high_score_father.bam & + samtools index ${dir}high_score_daughter.bam & + samtools index ${dir}high_score_son.bam & + wait; + + #get sequences based on ids + perl scripts/get_sequences_based_on_ids.pl references/reference.fasta X_results.txt >X_results_sequences.txt; + + get_results_in_bam_file () + { + for ARG in "$@"; + do + ./scripts/createBamFromResults.sh X_results.txt bam/aln_cleaned_sorted_deduplicated_${ARG}.bam bam/${ARG}.bam; + samtools index bam/${ARG}.bam; + done; + } + + get_results_in_bam_file mother father daughter son; + wait; + #send BAM files with corresponding contigs + mutt -s "LINKYX: Results of computation for X-linked genes" $email_address_of_user -a bam/mother.bam -a bam/mother.bam.bai -a bam/father.bam -a bam/father.bam.bai -a bam/daughter.bam -a bam/daughter.bam.bai -a bam/son.bam -a bam/son.bam.bai < messages_to_user/message_results_sentBamX; + + else + #we found NO genes + echo "No sequences found." >X_results.txt; + echo "No sequences found." >X_results_sequences.txt; + fi + + newline; +echo -e "Writing output to X_results.txt"; +echo -e "Total number of found X-linked genes: $final_contigs"; +
