Athurva Gore:LabNotes/ExomePipeline

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Revision as of 18:12, 16 February 2012 by >Ajgore (Created page with '=Human Genome Resequencing Pipeline= * Pipeline can be found in genome-miner:/home/ajgore/AG_Ext12T/GATK_01022012/variantCallerBwaGATK-latest/variantCallerBwaGATK.pl ** This link…')
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Human Genome Resequencing Pipeline

  • Pipeline can be found in genome-miner:/home/ajgore/AG_Ext12T/GATK_01022012/variantCallerBwaGATK-latest/variantCallerBwaGATK.pl
    • This link will always point to the updated version
  • Updated on 02/16/2012

Requirements

  • All required files are currently on genome-miner and triton cluster. Below paths list genome-miner locations
  • NCBI Human Genome Reference Sequence, v37 (/home/ajgore/AG_Ext12T/GATK_01022012/resources_1.2/human_g1k_v37.fasta)
  • CCDS BED file (/home/ajgore/AG_Ext12T/GATK_01022012/resources_1.2/CCDS.20120105.UCSC.nochr.bed)
  • dbSNP in VCF format (/home/ajgore/AG_Ext12T/GATK_01022012/resources_1.2/dbsnp_132.b37.vcf)
  • GATK from 01022012 (/home/ajgore/AG_Ext12T/GATK_01022012/GenomeAnalysisTK-1.4-1-g1b6d528/)
  • BWA 0.5.8 or later (/home/kunzhang/softwares/bwa-latest)
  • Samtools 0.1.7 or later (/home/kunzhang/softwares/samtools-latest)
  • Picard-tools 1.38 or later (/home/kunzhang/softwares/picard-tools-latest)

Instructions

Generate data annotation file (.info file)

Run pipeline

  • To run the pipeline, issue the following terminal command:
nohup /home/ajgore/AG_Ext12T/GATK_01022012/variantCallerBwaGATK-latest/variantCallerBwaGATK.pl prefix.info &> prefix.status
  • You can monitor the status of the pipeline by looking at the "prefix.status" file using less:
less prefix.status
  • The output of the pipeline will be two files:
    • {prefix}.fixed.bam
    • {prefix}.snp.raw.vcf

Exome Mutation Calling Pipeline

  • Still working on newest version
  • Testing out VQSR and VarScan as new variant callers