Exome alignment protocol

1. Major third party Software

    bwa-0.6.1-r104
    picard-tools-1.69
    samtools-0.1.16
    GATK
    SeqWare

2. Preparing reference database

3. Alignment against reference database

  • Script dir: /ddn/gs1/home/li11/project2012/blackShearProject/scripts
  • SeqWare script: /ddn/gs1/home/li11/svnroot/seqware/trunk/seqware-pipeline/perl/bin/sw_module_BWA.pl
  • Command: perl batchAln.pl –inDir /ddn/gs1/project/nextgen/post/black009/NG-14-Stumpo-Blackshear/ –outDir /ddn/gs1/home/li11/project2012/blackShearProject/resultsDir/

4. Getting alignment QC assessment

  • alignStat
    perl batchAlignStat.pl –inDir /ddn/gs1/home/li11/project2012/blackShearProject/resultsDir/ –outDir /ddn/gs1/home/li11/project2012/blackShearProjec/alignStatDir/
    
  • Remove duplicate: bash rmdup.sh 19U_R1 ~/project2012/BEexome/BWA_hg19/19U_GCCAAT_L005_R1_001_bwa_gnm.bam ~/project2012/BEexome/BWA_hg19/19U_GCCAAT_L005_R1_SE_rmdup.bam ~/project2012/BEexome/BWA_hg19/ > 19U_R1_SE_rmdup.log
  • AlignMetric: results will be generated from "remove duplicate script"
  • Coverage (need captured regions)

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