Genome Variant Analysis

java -jar GenomeAnalysisTK.jar
Function: Call SNPs and indels on a per-locus basis
Usage: java -jar GenomeAnalysisTK.jar -T UnifiedGenotyper -R reference.fasta -I input.bam -o raw_variants.vcf --output_mode EMIT_ALL_SITES
java -jar GenomeAnalysisTK.jar
Function: Build a recalibration model to score variant quality for filtering purposes
Usage: java -Xmx4g -jar GenomeAnalysisTK.jar -T VariantRecalibrator -R reference.fasta -input raw_variants.vcf -resource:hapmap,known=false,training=true,truth=true,prior=15.0 hapmap_3.3.b37.sites.vcf -resource:omni,known=false,training=true,truth=false,prior=12.0 1000G_omni2.5.b37.sites.vcf -resource:1000G,known=false,training=true,truth=false,prior=10.0 1000G_phase1.snps.high_confidence.vcf -resource:dbsnp,known=true,training=false,truth=false,prior=2.0 dbsnp_135.b37.vcf -an QD -an MQ -an MQRankSum -an ReadPosRankSum -an FS -an SOR -an InbreedingCoeff -mode SNP -recalFile output.recal -tranchesFile output.tranches -rscriptFile output.plots.R
java -jar GenomeAnalysisTK.jar
Function: Calculate read counts per allele for allele-specific expression analysis
Usage: java -jar GenomeAnalysisTK.jar -R reference.fasta -T ASEReadCounter -o file_name.csv -I input.bam -sites sites.vcf -U ALLOW_N_CIGAR_READS [-minDepth 10] [--minMappingQuality 10] [--minBaseQuality 2] [-drf DuplicateRead]
java -jar GenomeAnalysisTK.jar
Function: Select a subset of variants from a larger callset
Usage: java -Xmx2g -jar GenomeAnalysisTK.jar -R ref.fasta -T SelectVariants --variant input.vcf -o output.vcf --selectTypeToExclude INDEL
java -jar GenomeAnalysisTK.jar
Function: Set the mapping quality of reads with a given value to another given value
Usage: java -jar GenomeAnalysisTK.jar -T PrintReads -R reference.fasta -I input.bam -o output.file -rf ReassignOneMappingQuality -RMQF 255 -RMQT 60
java -jar GenomeAnalysisTK.jar
Function: Selects headers from a VCF source
Usage: java -jar GenomeAnalysisTK.jar -T SelectHeaders -R reference.fasta -V input.vcf -o output.vcf -hn FILTER -hn FORMAT -hn INFO -he '.*SnpEff.*'
java -jar GenomeAnalysisTK.jar
Function: Calculate genotype posterior likelihoods given panel data
Usage: java -jar GenomeAnalysisTK.jar -T CalculateGenotypePosteriors -R reference.fasta -V input.vcf -o output.withPosteriors.vcf
java -jar GenomeAnalysisTK.jar
Function: Annotate physical phasing information
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
java -jar GenomeAnalysisTK.jar
Function: Read clipping based on quality, position or sequence matching
Usage: java -jar GenomeAnalysisTK.jar -T ClipReads -R reference.fasta -I original.bam -o clipped.bam -XF seqsToClip.fasta -X CCCCC -CT "1-5,11-15" -QT 10
java -jar GenomeAnalysisTK.jar
Function: Extract specific fields from a VCF file to a tab-delimited table
Usage: java -jar GenomeAnalysisTK.jar -R reference.fasta -T VariantsToTable -V file.vcf -F CHROM -F POS -F ID -F QUAL -F AC -o results.table
java -jar GenomeAnalysisTK.jar
Function: Select a subset of variants from a larger callset
Usage: java -jar GenomeAnalysisTK.jar -T SelectVariants -R reference.fasta -V hapmap.vcf --discordance myCalls.vcf -o output.vcf -sn mySample
java -jar GenomeAnalysisTK.jar
Function: Combine per-sample gVCF files produced by HaplotypeCaller into a multi-sample gVCF file
Usage: java -jar GenomeAnalysisTK.jar -T CombineGVCFs -R reference.fasta --variant sample1.g.vcf --variant sample2.g.vcf -o cohort.g.vcf
java -jar GenomeAnalysisTK.jar
Function: Annotate variant calls with context information
Usage: java -jar GenomeAnalysisTK.jar -R reference.fasta -T VariantAnnotator -I input.bam -V input.vcf -o output.vcf -L input.vcf --resource:foo resource.vcf -E foo.AF --resourceAlleleConcordance
java -jar GenomeAnalysisTK.jar
Function: Perform joint genotyping on gVCF files produced by HaplotypeCaller
Usage: java -jar GenomeAnalysisTK.jar -T GenotypeGVCFs -R reference.fasta --variant sample1.g.vcf --variant sample2.g.vcf -o output.vcf
java -jar GenomeAnalysisTK.jar
Function: Select a subset of variants from a larger callset
Usage: java -jar GenomeAnalysisTK.jar -R ref.fasta -T SelectVariants --variant input.vcf -o output.vcf -se 'SAMPLE.+PARC' -select "QD > 10.0" -invertSelect