Category

Genome Variant Analysis


Usage

java -jar GenomeAnalysisTK.jar -T ReadBackedPhasing -R reference.fasta -I reads.bam --variant SNPs.vcf -L SNPs.vcf -o phased_SNPs.vcf --phaseQualityThresh 20.0


Manual

Argument name(s)Default valueSummary
Required Inputs
--variant
 -V
NAInput VCF file
Optional Outputs
--out
 -o
stdoutFile to which variants should be written
Optional Parameters
--cacheWindowSize
 -cacheWindow
20000The window size (in bases) to cache variant sites and their reads for the phasing procedure
--maxGenomicDistanceForMNP
 -maxDistMNP
1The maximum reference-genome distance between consecutive heterozygous sites to permit merging phased VCF records into a MNP record
--maxPhaseSites
 -maxSites
10The maximum number of successive heterozygous sites permitted to be used by the phasing algorithm
--min_base_quality_score
 -mbq
17Minimum base quality required to consider a base for phasing
--min_mapping_quality_score
 -mmq
20Minimum read mapping quality required to consider a read for phasing
--phaseQualityThresh
 -phaseThresh
20.0The minimum phasing quality score required to output phasing
--sampleToPhase
NAOnly include these samples when phasing
Optional Flags
--debug
falseIf specified, print out very verbose debug information (if -l DEBUG is also specified)
--enableMergePhasedSegregatingPolymorphismsToMNP
 -enableMergeToMNP
falseMerge consecutive phased sites into MNP records


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