Changes

From Genome Analysis Wiki
Jump to navigationJump to search
1,714 bytes removed ,  22:16, 23 November 2009
no edit summary
Line 8: Line 8:     
   lanecheck  --referencegenome /usr/cluster/share/karma/NCBI36.fa --dbSNPfile /home/1000G/data/GenomeSNP.dbsnp,  \
 
   lanecheck  --referencegenome /usr/cluster/share/karma/NCBI36.fa --dbSNPfile /home/1000G/data/GenomeSNP.dbsnp,  \
            --lanefile lane.lst --pedfile test.ped --datfile test.dat --mapfile test.map --prefix result
+
            --lanefile lane.lst --pedfile test.ped --datfile test.dat --mapfile test.map --prefix result
 
   
 
   
   Line 15: Line 15:  
=== Input Files ===
 
=== Input Files ===
   −
  lanecheck Input Files : --referencegenome [/usr/cluster/share/karma/NCBI36.fa], \
+
  --referencegenome referencegenome file
              --dbSNPfile [/home/1000G/data/GenomeSNP.dbsnp],  \
+
  --dbSNPfile dbsnp position file  
              --lanefile [], --pedfile [], --datfile [], --mapfile [], \
+
  --lanefile a list of lane file with path
                  --mapquality [-1], --genocount [1000000], --nonrefhomo, \
+
  --pedfile genotype information of the samples for checking
                  --verbose, --coverage, --countbysite, --memorymap \
+
  --datfile a companion data file for pedigree file (each row: M snpname, e.g. M rs1234)
  Output Files : --prefix []
+
  --mapfile a companion data file for pedigree file (each row: chr snpname pos, e.g. 5 rs1234 56789)
  −
--referencegenome ''genotype likelihood file'' 
  −
  --dbSNPfile ''genotype likelihood file''   
  −
  --lanefile ''genotype likelihood file''   
  −
  --pedfile
  −
  --datfile
  −
  --mapfile
   
   
 
   
    
=== Basic Output Options ===
 
=== Basic Output Options ===
   −
  lanecheck    Input Files : --referencegenome [/usr/cluster/share/karma/NCBI36.fa], \
+
  --prefix specify the name of the output file
                  --dbSNPfile [/home/1000G/data/GenomeSNP.dbsnp],  \
  −
                  --lanefile [], --pedfile [], --datfile [], --mapfile [], \
  −
                  --mapquality [-1], --genocount [1000000], --nonrefhomo, \
  −
                  --verbose, --coverage, --countbysite, --memorymap \
  −
  Output Files : --prefix []
  −
  −
  −
-b ''baseCallFile''                Specifies the name of the output [[VCF|VCF]]-format base call file
  −
-p ''threshold''                  The threshold for base calling. Base calls will be made when their posterior likelihood exceeds ''threshold''
  −
--reference                    Positions called as homozygous reference will be included in the output. 
  −
--verbose                      Print debug information to the screen
     −
=== Filtering According to Depth and Map Quality ===
+
=== Filtering  ===
   −
  --minMapQuality ''threshold''      Positions where the root-means squared mapping quality falls below this threshold will be excluded.
+
--minmapquality reads with with mapquality falling below this threshold will be excluded
  --strict                      When the map quality is interpreted ''strictly'', all three trio individuals must exceed ''minMapQuality''
+
  --genocount the maximum number of genotypes compared
                            before a call is made. Without the --strict option, reads for individuals below the threshold are ignored.
+
--verbose generate detailed
 
+
--coverage
  --minTotalDepth ''threshold''          Positions where the read depth falls below this threshold will be excluded.
+
  --countbysite generate'' detailed statistic for each base compared
  --maxTotalDepth ''threshold''          Positions where the read depth exceeds this threshold will be excluded.
+
   −
=== Sample Labels ===
+
=== Other Options ===
   −
  --father ''fatherLabel''          Specifies a label for the male parent, which will be included in the output VCF file
+
  --memorymap use memory map technique for efficient memory sharing
--mother ''motherLabel''          Specifies a label for the female parent, which will be included in the output VCF file
  −
  --child ''childLabel''            Specifies a label for the child, which will be included in the output VCF file
      
=== X Chromosome Variant Calling ===
 
=== X Chromosome Variant Calling ===
533

edits

Navigation menu