Changes

From Genome Analysis Wiki
Jump to navigationJump to search
108 bytes added ,  00:34, 25 February 2013
no edit summary
Line 114: Line 114:  
Run the variant calling pipeline:
 
Run the variant calling pipeline:
 
  $GCHOME/gotcloud snpcall --conf [[GBR60vc.conf]] --outdir $GCOUT --snpcall --numjobs 2
 
  $GCHOME/gotcloud snpcall --conf [[GBR60vc.conf]] --outdir $GCOUT --snpcall --numjobs 2
  −
TBD - add link explaining the contents of the .conf & .index files.
      
Upon successful completion of the variant calling pipeline, you will see the following message:  
 
Upon successful completion of the variant calling pipeline, you will see the following message:  
Line 121: Line 119:     
The final VCF produced by the variant calling pipeline containing only the variants that passed all filters is:
 
The final VCF produced by the variant calling pipeline containing only the variants that passed all filters is:
  ls vcResults/split/chr20/chr20.filtered.PASS.vcf.gz
+
  ls $GCOUT/split/chr20/chr20.filtered.PASS.vcf.gz
    
The VCF including the filtered sites with the filters marked in the Filter field (or "PASS" if the site was not filtered) is:
 
The VCF including the filtered sites with the filters marked in the Filter field (or "PASS" if the site was not filtered) is:
  ls vcResults/vcf/chr20/chr20.filtered.vcf.gz
+
  ls $GCOUT/vcfs/chr20/chr20.filtered.vcf.gz
   −
TBD what sort of post analysis is necessary???
      
== STEP 4 : Run GotCloud Genotype Refinement Pipeline ==
 
== STEP 4 : Run GotCloud Genotype Refinement Pipeline ==
Instructions for running Beagle/Thunder.
+
The next step is to perform genotype refinement using linkage disequilibrium information using [http://faculty.washington.edu/browning/beagle/beagle.html Beagle] & [[ThunderVCF]].
 +
 
 +
$GCHOME/gotcloud gtrefine --conf [[GBR60vc.conf]] --outdir $GCOUT --snpcall --numjobs 2
     

Navigation menu