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Line 10: Line 10:  
  setenv IN /home/hyun/wed/input
 
  setenv IN /home/hyun/wed/input
 
  setenv REF /home/hyun/wed/ref
 
  setenv REF /home/hyun/wed/ref
 
+
 
  setenv OUT ~/seq/wednesday/output
 
  setenv OUT ~/seq/wednesday/output
 
  mkdir --p ${OUT}
 
  mkdir --p ${OUT}
Line 64: Line 64:  
9. COMPUTE THE GENOTYPE LIKELIHOOD
 
9. COMPUTE THE GENOTYPE LIKELIHOOD
   −
${BIN}/samtools-hybrid pileup -g -f ${REF}/human_g1k_v37_chr20.fa ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.deduped.bam > ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.glf
+
${BIN}/samtools-hybrid pileup -g -f ${REF}/human_g1k_v37_chr20.fa ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.deduped.bam > ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.glf
 
+
${BIN}/samtools-hybrid glfview ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.glf | less
+
${BIN}/samtools-hybrid glfview ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.glf | less
    
10. SINGLE-SAMPLE GENOTYPE CALLING using GLFSINGLE
 
10. SINGLE-SAMPLE GENOTYPE CALLING using GLFSINGLE
   −
${BIN}/glfSingle --maxDepth 10000 --minMapQuality 20 -p 0.9 -g ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.glf -b ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf
+
${BIN}/glfSingle --maxDepth 10000 --minMapQuality 20 -p 0.9 -g ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.glf -b ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf
 
+
less ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf
+
less ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf
    
11. COMPUTE THE GENOTYPE LIKELIHOOD OF HIGH-COVERAGE DATA  
 
11. COMPUTE THE GENOTYPE LIKELIHOOD OF HIGH-COVERAGE DATA  
   −
${BIN}/samtools-hybrid pileup -g -f ${REF}/human_g1k_v37_chr20.fa ${IN}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.bam > ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.glf
+
${BIN}/samtools-hybrid pileup -g -f ${REF}/human_g1k_v37_chr20.fa ${IN}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.bam > ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.glf
    
12. SINGLE-SAMPLE GENOTYPE CALLING on the HIGH COVERAGE DATA
 
12. SINGLE-SAMPLE GENOTYPE CALLING on the HIGH COVERAGE DATA
   −
${BIN}/glfSingle --maxDepth 10000  --minMapQuality 20 -p 0.9 -g ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.glf -b ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf
+
${BIN}/glfSingle --maxDepth 10000  --minMapQuality 20 -p 0.9 -g ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.glf -b ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf
 
+
less ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf
+
less ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf
    
13. COUNT NUMBER OF SNPs and OVERLAPS  
 
13. COUNT NUMBER OF SNPs and OVERLAPS  
   −
grep -v ^# ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf | wc -l  
+
grep -v ^# ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf | wc -l  
 
+
grep -v ^# ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf | wc -l  
+
grep -v ^# ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf | wc -l  
 
+
cat ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf | grep -v ^# | cut -f 1,2 | sort | uniq -d | wc -l
+
cat ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf | grep -v ^# | cut -f 1,2 | sort | uniq -d | wc -l
    
cat ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf | grep -v ^# | cut -f 1,2 | sort | uniq -d  
 
cat ${OUT}/NA12878.exon-targetted.ILLUMINA.chr20.19986kb-20281kb.vcf ${OUT}/NA12878.high_coverage.ILLUMINA.chr20.19986kb-20281kb.vcf | grep -v ^# | cut -f 1,2 | sort | uniq -d  

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