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WESIM, WholeGenomeGermlineSingleSample - Coggle Diagram
WESIM
Funcotator
VariantRecalibrator
ApplyRecalibration
Call Variants Per-Sample
HaplotypeCaller
CNNScoreVariants
FilterVariantTranches
GenotypeGVCFs
QC Fastq
Map to Reference
Mark Duplicates
Recallbrate Base Quality Scores
Functionally Annotated Variants
WholeGenomeGermlineSingleSample
input
SampleAndUnmappedBams
sample_and_unmapped_bams
GermlineSingleSampleReferences
references
PapiSettings
papi_settings
File
haplotype_database_file
wgs_coverage_interval_list
call
ToBam.UnmappedBamToAlignedBam
input
SampleAndUnmappedBams
GermlineSingleSampleReferences
PapiSettings
File
contamination_sites_ud
contamination_sites_bed
contamination_sites_mu
haplotype_database_file
call
Alignment.GetBwaVersion
scatter
sample_and_unmapped_bams.flowcell_unmapped_bams
QC.CollectQualityYieldMetrics
Alignment.SamToFastqAndBwaMemAndMba
QC.CollectUnsortedReadgroupBamQualityMetrics
Utils.SumFloats
BamProcessing
SortSam
command {
java -Dsamjdk.compression_level=~{compression_level} -Xms4000m -jar /usr/gitc/picard.jar \
SortSam \
INPUT=~{input_bam} \
OUTPUT=~{output_bam_basename}.bam \
SORT_ORDER="coordinate" \
CREATE_INDEX=true \
CREATE_MD5_FILE=true \
MAX_RECORDS_IN_RAM=300000
CheckContamination
scatter
CreateSequenceGroupingTSV.sequence_grouping
BaseRecalibrator
command {
gatk --java-options "-XX:GCTimeLimit=50 -XX:GCHeapFreeLimit=10 -XX:+PrintFlagsFinal \
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Processing.GatherBqsrReports
command {
gatk --java-options "-Xms3000m" \
GatherBQSRReports \
-I ~{sep=' -I ' input_bqsr_reports} \
-O ~{output_report_filename}
output
output_bqsr_report
scatter
CreateSequenceGroupingTSV.sequence_grouping_with_unmapped
ApplyBQSR
command {
gatk --java-options "-XX:+PrintFlagsFinal -XX:+PrintGCTimeStamps -XX:+PrintGCDateStamps \
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input
input_bam
recalibration_report
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output
recalibrated_bam
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GatherSortedBamFiles
input
input_bams
ApplyBQSR.recalibrated_bam
command {
java -Dsamjdk.compression_level=~{compression_level} -Xms2000m -jar /usr/gitc/picard.jar \
GatherBamFiles \
INPUT=~{sep=' INPUT=' input_bams} \
OUTPUT=~{output_bam_basename}.bam \
CREATE_INDEX=true \
CREATE_MD5_FILE=true
output
output_bam
MarkDuplicates
command {
java -Dsamjdk.compression_level=~{compression_level} -Xms~{java_memory_size}g -jar /usr/gitc/picard.jar \
MarkDuplicates \
INPUT=~{sep=' INPUT=' input_bams} \
OUTPUT=~{output_bam_basename}.bam \
METRICS_FILE=~{metrics_filename} \
VALIDATION_STRINGENCY=SILENT \
~{"READ_NAME_REGEX=" + read_name_regex} \
OPTICAL_DUPLICATE_PIXEL_DISTANCE=2500 \
ASSUME_SORT_ORDER="queryname" \
CLEAR_DT="false" \
ADD_PG_TAG_TO_READS=false
output
output_bam
GatherBamFiles.output_bam
Utils.CreateSequenceGroupingTSV
AggregatedQC.AggregatedBamQC
input
ToCram.BamToCram
input
QC.CollectWgsMetrics
input
QC.CollectRawWgsMetrics
input
ToGvcf.VariantCalling
input
output
output_vcf