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| 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 |
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| === Input Files === | | === Input Files === |
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− | 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) |
− |
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− | --referencegenome ''genotype likelihood file''
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− | --dbSNPfile ''genotype likelihood file'' | |
− | --lanefile ''genotype likelihood file'' | |
− | --pedfile | |
− | --datfile | |
− | --mapfile | |
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| === Basic Output Options === | | === Basic Output Options === |
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− | lanecheck Input Files : --referencegenome [/usr/cluster/share/karma/NCBI36.fa], \ | + | --prefix specify the name of the output file |
− | --dbSNPfile [/home/1000G/data/GenomeSNP.dbsnp], \
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− | --lanefile [], --pedfile [], --datfile [], --mapfile [], \
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− | --mapquality [-1], --genocount [1000000], --nonrefhomo, \
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− | --verbose, --coverage, --countbysite, --memorymap \
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− | Output Files : --prefix []
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− |
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− |
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− | -b ''baseCallFile'' Specifies the name of the output [[VCF|VCF]]-format base call file
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− | -p ''threshold'' The threshold for base calling. Base calls will be made when their posterior likelihood exceeds ''threshold''
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− | --reference Positions called as homozygous reference will be included in the output.
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− | --verbose Print debug information to the screen
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− | === Filtering According to Depth and Map Quality === | + | === Filtering === |
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− | --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 === |
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− | --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 | |
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| === X Chromosome Variant Calling === | | === X Chromosome Variant Calling === |