DRAGEN
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        • DNA Mapping
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        • Sorting and Duplicate Marking
        • Small Variant Calling
          • ROH Caller
          • B-Allele Frequency Output
          • Somatic Mode
          • Joint Analysis
          • De Novo Small Variant Filtering
          • Autogenerated MD5SUM for VCF Files
          • Force Genotyping
          • Machine Learning for Variant Calling
          • Evidence BAM
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          • VCF Imputation
          • Multi-Region Joint Detection
        • Copy Number Variant Calling
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          • DRAGEN Fragmentomics
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        • Unique Molecular Identifiers
        • Indel Re-aligner (Beta)
        • Star Allele Caller
        • High Coverage Analysis
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        • DUX4 Rearrangement Caller
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        • Gene Fusion Detection
        • Gene Expression Quantification
        • RNA Variant Calling
        • Splice Variant Caller
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        • scRNA
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        • Kmer Classifier Database Builder
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        • DNA Germline Panel UMI
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  • Notes and additional options
  • Hashtable
  • Input options
  • Mapping and Aligning
  • UMI
  • SNV
  • Annotation
  • VNTR
  • HLA
  • CNV

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  1. Product Guides
  2. DRAGEN v4.3
  3. DRAGEN Recipes

DNA Germline WGS UMI

The DRAGEN recipe includes the recommended pipeline specific commands.

  
/opt/dragen/$VERSION/bin/dragen         #DRAGEN install path 
--ref-dir $REF_DIR                      #path to DRAGEN graph hashtable 
--output-directory $OUTPUT 
--intermediate-results-dir $PATH        #e.g. SDD /staging 
--output-file-prefix $PREFIX 
# Inputs 
--fastq-list $PATH                      #see 'Input Options' for FQ, BAM or CRAM 
--fastq-list-sample-id $STRING 
# Mapper 
--enable-map-align true                 #optional with BAM/CRAM input 
--enable-map-align-output true          #optionally save the output BAM 
--enable-sort true                      #default=true 
# UMI 
--umi-enable true 
--umi-source STRING                     #Default='qname' 
--umi-library-type STRING               #e.g. random-duplex 
--umi-metrics-interval-file $BED 
--remove-duplicates false 
--umi-min-supporting-reads 1            #Default=2 
# Small variant caller 
--enable-variant-caller true 
# Annotation 
--variant-annotation-data PATH 
--variant-annotation-assembly GRCh37/8 
--enable-variant-annotation true 
# SV 
--enable-sv true 
# CNV 
--enable-cnv true 
--cnv-enable-self-normalization true 
# HLA genotyper 
--enable-hla true 
--hla-enable-class-2 true 
# Targeted caller 
--enable-targeted true                  #Targeted 
# Star allele 
--enable-star-allele true 
# PGX 
--enable-pgx true                       #PGX 
# Short tandem repeats 
--repeat-genotype-enable true 
# Variable Number Tandem Repeat (VNTR) Caller 
--enable-vntr true 
--sv-vntr-merge false                   #do not merge into the sv vcf 

Notes and additional options

Hashtable

For DRAGEN germline runs, it is recommended to use the graph hashtable.

Input options

DRAGEN input sources include: fastq list, fastq, bam, or cram.

FQ list Input

--fastq-list $PATH 
--fastq-list-sample-id $STRING 

FQ Input

--fastq-file1 $PATH 
--fastq-file2 $PATH 
--RGSM $STRING 
--RGID $STRING 

BAM Input

--bam-input $PATH 

CRAM Input

--cram-input $PATH 

Mapping and Aligning

Option
Description

--enable-map-align true

Optionally disable map & align (default=true).

--enable-map-align-output true

Optionally save the output BAM (default=false).

--Aligner.clip-pe-overhang 2

Clean up any unwanted UMI indexes. Only use when reads contain UMIs, but UMI collapsing was not run.

UMI

Option
Description

--umi-source STRING

Specify the input type for the UMI sequence. Options: qname, fastq, bamtag.

--umi-library-type STRING

Set the batch option for different UMIs correction. Options: random-duplex, random-simplex, nonrandom-duplex.

--umi-nonrandom-whitelist $PATH

If UMI is nonrandom, either a whitelist or correction table is required. The whitelist includes a valid UMI sequence per line.

--umi-correction-table $PATH

If UMI is nonrandom, either a whitelist or correction table is required. The correction table defaults to the table used by TruSight Oncology: <INSTALL_PATH>/resources/umi/umi_correction_table.txt.gz.

--umi-min-supporting-reads INT

Specify the number of matching UMI inputs reads required to generate a consensus read. Any family with insufficient supporting reads is discarded. The default is 2.

--umi-metrics-interval-file $BED

Target region in BED format.

--umi-emit-multiplicity both

--umi-start-mask-length INT

Number of additional bases to ignore from start of read. The default is 0. To reduce FP optionally set to 1.

--umi-end-mask-length INT

Number of additional bases to ignore from end of read. The default is 0. To reduce FP optionally set to 3.

SNV

DRAGEN SNV VC employs machine learning based variant recalibration (DRAGEN-ML). It processes read and other contextual evidence to remove false positives, recover false negatives and reduce zygosity errors. No additional setup is required. DRAGEN-ML is enabled by default as needed, when running the germline SNV VC on hg19 or hg38.

Note that we do not recommend changing the default QUAL thresholds of 3 for DRAGEN-ML and 10 for DRAGEN without ML. These values differ from each other because DRAGEN-ML improves the calibration of QUAL scores, leading to a change in the scoring range.

Option
Description

--vc-target-bed

Limit variant calling to region of interest.

--vc-combine-phased-variants-distance INT

Maximum distance over which phased variants will be combined. Set to 0 to disable. Valid range is [0; 15] (Default=2)

--vc-emit-ref-confidence GVCF

To enable gVCF output.

--vc-enable-vcf-output

To enable VCF file output during a gVCF run, set to true. The default value is false.

Annotation

VNTR

Option
Description

--sv-vntr-merge false

Option to disabe automatic merging of VNTR calls into SV VCF.

HLA

Option
Description

--enable-hla

Enable HLA typer (this setting by default will only genotype class 1 genes)

--hla-as-filter-min-threshold

Internal option to set min alignment score threshold. The default is 59 and works for WES and WGS. Set to 29 for panels.

--hla-as-filter-ratio-threshold

Minimum Alignment score of a read mate to be considered. The default is 0.67 and works for WES and WES. Set to 0.85 for panels.

--hla-enable-class-2

Extend genotyping to HLA class 2 genes (default=true).

CNV

Option
Description

--cnv-enable-gcbias-correction true

Enable or disable GC bias correction when generating target counts.

--cnv-segmentation-mode $SEG_MODE

Option to override the default segmentation algorithm. Defaults include slm for germline WGS, aslm for somatic WGS, and hslm for targeted analysis.

--cnv-segmentation-bed $PATH

If you are using somatic targeted panels with a set of genes supplied with the capture kit, then you can bypass segmentation by specifying a cnv-segmentation-bed and using cnv-segmentation-mode=bed.

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See:

Set the consensus sequence type to output. DRAGEN UMI allows collapsing duplex sequences from the two strands of the original molecules. For more information, see .

For more information see: .

For more detail on the small variant caller in somatic mode please refer to

For instructions on how to download the Nirvana annotation database, please refer to

For more details see:

For more information, see .

Product Files
Somatic Mode
Nirvana
VNTR Calling
CNV Calling
UMI Options
Merge Duplex UMIs