DRAGEN secondary analysis Product Files

Reference Files

Assembly Type Reference Genome Hash Table File Name Major DRAGEN Version   3.8 3.9 3.10 4.0 4.2 4.3 4.4
Hash Table Version   8 8 8 8 9 10 11
CHM13 Pangenome (Graph) reference Homo sapiens [T2T] CHM13_v2 v5 Pangenome chm13_v2-cnv.graph.hla.methyl_cg.rna-11-r5.0-1 11              
Homo sapiens [T2T] CHM13_v2 v4 Multigenome chm13_v2-cnv.graph.hla.rna-10-r4.0-1
10              
Homo sapiens [T2T] CHM13_v2 v3 Multigenome chm13_v2-cnv.graph.hla.rna-9-r3.0-1 9          
Linear reference Homo sapiens [T2T] CHM13_v2 v5  chm13_v2-cnv.hla.methyl_cg.methylated_combined.rna-11-r5.0-1 11              
Homo sapiens [T2T] CHM13_v2 v4 chm13_v2-cnv.hla.methylated_combined.rna-10-r4.0-1 10              
Homo sapiens [T2T] CHM13_v2 v3 chm13_v2-cnv.hla.rna-9-r3.0-1 9          
hg19 Pangenome (Graph) reference Homo sapiens [UCSC] hg19 v5 Pangenome hg19-alt_masked.cnv.graph.hla.methyl_cg.rna-11-r5.0-1 11              
Homo sapiens [UCSC] hg19 v4 Multigenome hg19-alt_masked.cnv.graph.hla.rna-10-r4.0-1 10              
Homo sapiens [UCSC] hg19 v3 Multigenome hg19-alt_masked.cnv.graph.hla.rna-9-r3.0-1 9          
Homo sapiens [UCSC] hg19 v2 Multigenome hg19-alt_masked.cnv.graph.hla.rna-8-r2.0-1.run 8            
Homo sapiens [UCSC] hg19 alt-masked Multigenome hg19_alt_masked+cnv+graph+rna-8-r1.0-1 8              
Homo sapiens [UCSC] hg19 alt-aware Multigenome hg19_alt_aware+cnv+graph+rna-8-r1.0-0
8          
Linear reference Homo sapiens [UCSC] hg19 v5 hg19-alt_masked.cnv.hla.methyl_cg.methylated_combined.rna-11-r5.0-1 11              
Homo Sapiens [UCSC] hg19 v4 hg19-alt_masked.cnv.hla.methylated_combined.rna-10-r4.0-1
10              
Homo Sapiens [UCSC] hg19 v3 hg19-alt_masked.cnv.hla.rna-9-r3.0-1 9              
Homo sapiens [UCSC] hg19 methylation v3 hg19-alt_masked.methylated_combined.methylation.seed_len27-9-r3.0-1 9              
Homo sapiens [UCSC] hg19 v2 hg19-alt_masked.cnv.hla.rna-8-r2.0-1 8              
hg38 Pangenome (Graph) reference Homo sapiens [1000 Genomes] hg38 v5 Pangenome hg38-alt_masked.cnv.graph.hla.methyl_cg.rna-11-r5.0-1 11              
Homo sapiens [1000 Genomes] hg38 v4 Multigenome hg38-alt_masked.cnv.graph.hla.rna-10-r4.0-1 10              
Homo sapiens [1000 Genomes] hg38 v3 Multigenome hg38-alt_masked.cnv.graph.hla.rna-9-r3.0-1 9          
Homo sapiens [1000 Genomes] hg38 v2 Multigenome hg38-alt_masked.cnv.graph.hla.rna-8-r2.0-1 8            
Homo sapiens [1000 Genomes] hg38 alt-masked Multigenome hg38_alt_masked+cnv+graph+rna-8-r1.0-1 8              
Homo sapiens [1000 Genomes] hg38 alt-aware Multigenome hg38_alt_aware+cnv+graph+rna-8-r1.0-0 8          
Linear reference Homo sapiens [1000 Genomes] hg38 v5 hg38-alt_masked.cnv.hla.methyl_cg.methylated_combined.rna-11-r5.0-1 11              
Homo sapiens [1000 Genomes] hg38 v4 hg38-alt_masked.cnv.hla.methylated_combined.rna-10-r4.0-1 10              
Homo sapiens [1000 Genomes] hg38 v3
hg38-alt_masked.cnv.hla.rna-9-r3.0-1 9              
Homo sapiens [1000 Genomes] hg38 methylation v3
hg38-alt_masked.methylated_combined.methylation.seed_len27-9-r3.0-1 9              
Homo sapiens [1000 Genomes] hg38 v2 hg38-alt_masked.cnv.hla.rna-8-r2.0-1 8              
hs37d5 Pangenome (Graph) reference Homo sapiens [NCBI] hs37d5 v5 Pangenome  hs37d5-cnv.graph.hla.methyl_cg.rna-11-r5.0-1 11              
Homo sapiens [NCBI] hs37d5_chr v5 Pangenome  hs37d5_chr-cnv.graph.hla.methyl_cg.rna-11-r5.0-1 11              
Homo sapiens [NCBI] hs37d5 v4 Multigenome hs37d5-cnv.graph.hla.rna-10-r4.0-1 10              
Homo sapiens [NCBI] hs37d5 v3 Multigenome hs37d5-cnv.graph.hla.rna-9-r3.0-1 9          
Homo sapiens [NCBI] hs37d5 Multigenome hs37d5+cnv+graph+rna-8-r1 8            
Linear reference Homo sapiens [NCBI] hs37d5 v5 hs37d5-cnv.hla.methyl_cg.methylated_combined.rna-11-r5.0-1 11              
Homo sapiens [NCBI] hs37d5_chr v5  hs37d5_chr-cnv.hla.methyl_cg.methylated_combined.rna-11-r5.0-1 11              
Homo sapiens [NCBI] hs37d5 v4
hs37d5-cnv.hla.methylated_combined.rna-10-r4.0-1 10              
Homo sapiens [NCBI] hs37d5 v3 hs37d5-cnv.hla.rna-9-r3.0-1 9              
hg38-mm39 Linear reference Homo sapiens [1000 Genomes] - Mus musculus [Gencode] - hg38-mm39 v5 hg38-mm39-alt_masked.cnv.hla.methyl_cg.methylated_combined.rna-11-r5.0-1 11              

DRAGEN Resource Files

DRAGEN Component/Pipeline Resource Files Content Description  Size Date Major DRAGEN version
3.7 3.8 3.9 3.10 4.0 4.1 4.2 4.3 4.4
Illumina DRAGEN Hash Table Builder (Pangenome Reference Generation) CHM13-v2 Pangenome Reference Collection v5 msVCF to build the DRAGEN multigenome reference, FASTA files, graph exclusion .bed files , mask .bed files, extra kmer .bed files (named "<FASTA>_graph_bed")

To reconstruct the DRAGEN multigenome reference use all the files provided from same the reference build.

To customize the DRAGEN multigenome reference, use msVCF, and any of the other resource files.

2.3 GB May 2025                
hg19 Pangenome Reference Collection v5 2.1 GB                
hg38 Pangenome Reference Collection v5 2.1 GB                
hs37d5 Pangenome Reference Collection v5 2.1 GB                
CHM13-v2 Multigenome Reference Collection v4 2.1 GB June 2024                
hg19 Multigenome Reference Collection v4 2.0 GB                
hg38 Multigenome Reference Collection v4 2.0 GB                
hs37d5 Multigenome Reference Collection v4 1.9 GB                
Illumina DRAGEN Output Reports DRAGEN Output Reports rpm v4.4.4 - Reports Docker image or rpm package in tar.gz Provides tools for generating rich, interactive and self-contained HTML reports from DRAGEN's output files. Summary report is a summary of main metrics vs. full report. 33 B May 2025                
DRAGEN Output Reports rpm v4.4.4 - Summary Reports 14 MB                
DRAGEN Output Reports v4.3.6 147 MB June 2024                
Illumina DRAGEN ML  DRAGEN ML Model v2.0 ML model file v2.0 To be used when DRAGEN ML is enabled during variant calling. For DRAGEN v4.0 and later, the ML model is packaged within DRAGEN. 13.7 GB      

1

1

1

1

1

1
DRAGEN ML Model v3.1 ML model file v3.1 13.7 GB        

1

1

1

1

1
Illumina DRAGEN Somatic small variant calling -  WGS, WES SNV Somatic Systematic Noise v2.0.0 Collection of noise baseline  BED  files for hg19, hs37d5, hg38 - WGS and WES To be used with DRAGEN small variant calling—Somatic 9.6 GB                
SNV Somatic Systematic Noise v1.1.0 1.5 GB                
Somatic Systematic Noise Baseline Collection v1.0.0 1.9 GB      
Illumina DRAGEN Somatic  SV calling -  WGS, WES SV Systematic Noise Baseline Collection v3.1.0 Collection of noise baseline BEDPE files for hg19, hs37d5, hs37d5-chr, hg38, WGS, and FFPE sample/Heme specific  To be used with DRAGEN SV calling—Somatic 185 MB May 2025                
SV Systematic Noise Baseline Collection v3.0.0 Collection of noise baseline BEDPE files for hg19, hs37d5, hg38, WGS and Heme specific  112 MB May 2024                
SV Systematic Noise Baseline Collection v2.0.1 Collection of noise baseline  BEDPE files for hg19, hs37d5, hg38 - WGS and WES 20.6 MB July 2023              
SV Systematic Noise Baseline Collection v1.0.0 16 MB Jul 2022              
Illumina DRAGEN CNV - Germline Enrichment pipelines CNV Panel of Normals for Twist Bioscience for Illumina Exome FFPE 2.5 - DRAGEN 4.4 v1.0   PON generated from 45 FFPE benign adjacent samples from different tissue types with Illumina FFPE DNA Prep with Exome 2.5 Enrichment protocol and sequenced on the NovaSeq 6000. 404 MB May 2025                
CNV Panel of Normals for Twist Bioscience for Illumina Exome Mito 2.5 - DRAGEN 4.4 v1.0   PON generated from 54 samples, Illumina DNA Prep with Enrichment protocol with mitochondrial genome enrichment, pooled by mass, overnight hybridization, sequencing on NovaSeq 6000 and NextSeq 2000 1.9 GB May 2025                
CNV Panel of Normals for Twist Bioscience for Illumina Exome 2.5 - DRAGEN 4.4 v1.0   PON generated from 54 samples, Illumina DNA Prep with Enrichment protocol, pooled by mass, overnight hybridization, sequencing on NovaSeq 6000 and NextSeq 2000 1.9 GB May 2025                
CNV Panel of Normals for Twist Bioscience for Illumina Exome 2.5 Panel - DRAGEN 4.3 v1.0 Collection of panel of normals (PON) files (combined.counts.txt.gz) for exome PON generated from 54 samples, Illumina DNA Prep with Enrichment protocol, pooled by mass, overnight hybridization, sequencing on NovaSeq 6000 and NextSeq 2000. 4.4 GB June 2024                
CNV Panel of Normals for Twist Bioscience for Illumina Exome 2.5 Panel - DRAGEN 4.2 v2.0 PON generated from 54 samples, Illumina DNA Prep with Enrichment protocol, pooled by mass, overnight hybridization, sequencing on NextSeq 2000 only. 2.8 GB                  
CNV Panel of Normals for Twist Bioscience for Illumina Exome 2.5 Panel - DRAGEN 4.2 v1.0 PON generated from 26 samples, Illumina DNA Prep with Exome 2.5 Enrichment protocol, pooled by volume, overnight hybridization, sequencing on NovaSeq 6000 only. 1.1 GB                  
CNV Panel of Normals for Twist Bioscience for Illumina Exome 2.5 Panel - DRAGEN 4.0 v1.0 PON generated from 26 samples, Illumina DNA Prep with Exome 2.5 Enrichment protocol, pooled by volume, overnight hybridization, sequencing on NovaSeq 6000 only. 1.0 GB                  
CNV Panel of Normals for Twist Bioscience for Illumina Exome 2.5 Panel - DRAGEN 3.10 v1.0 PON generated from 54 samples, Illumina DNA Prep with Enrichment protocol, pooled by mass, overnight hybridization, sequencing on NextSeq 2000 only. 914.9 MB                  
CNV Panel of Normals for TruSight Hereditary Cancer Panel - DRAGEN 4.4 v1.0

Collection of panel of normals files (PON) (combined.counts.txt.gz) for TruSight Hereditary Cancer Panel.

These are pre-constructed PON files. For optimal performance, it is recommended that you generate your own PON best matched to your lab's protocol.

PONs generated from 42 samples, Illumina DNA Prep with Enrichment protocol, hybridization at 58C, sequencing on MiSeq, NextSeq 550, NextSeq 2000, and NovaSeq 6000 34 MB May 2025                
CNV Panel of Normals for TruSight Hereditary Cancer Panel - DRAGEN 4.3 v2.0 41.8 MB                  
CNV Panel of Normals for TruSight Hereditary Cancer Panel - DRAGEN 4.2 v1.0 30.2 MB                  

Illumina DRAGEN CNV - Somatic TO (tumor-only) 

and

Illumina DRAGEN Germline ASCN CNV

hg38 CNV Population SNP VCF v1.0 Collection of population SNPs used in tumor-only workflow for Somatic pipeline, and in ASCN CNV Germline pipeline

To be used in tumor-only workflows to identify candidate germline heterozygous sites used to estimate B-allele profile in tumor samples.

To be used in germline ASCN workflows to identify candidate sites used to estimate B-allele profile in germline samples.

1.8 GB   S S S S S S S S S and G
hg19 CNV Population SNP VCF v1.0 1.8 GB   S S S S S S S S S and G
hs37d5 CNV population SNP VCF v1.0 1.8 GB   S S S S S S S S S and G
CHM13-v2 CNV population SNP VCF v1.0 4.0 GB               S S S and G
Illumina DRAGEN MSI Microsatellite Files v1.1.0 Collection of DRAGEN Microsatellite Site Files to be used in DRAGEN WES / WGS somatic pipeline. This version adds panel of normal for FFPE samples WGS/WES, MSI sites have been further curated. Recommendation is to use this version for v4.2+. 385 MB May 2025            
Microsatellite Files v1.0.0   48 MB May 2024
Illumina DRAGEN SNV Pipeline Bed File Collection v1.0.0  Collection of ALU excluded region bed files for hg38, hg19 and hs37d5 ALU Bed files for use in FFPE samples with option --vc-excluded-regions-bed
37 MB May 2024
Illumina DRAGEN Targeted caller Targeted Caller Systematic Noise Baseline Collection v1.0.0 Collection of systematic noise baseline  json files for  hg38, hg19 and hs37d5 To be used with targeted caller on WES data. 138 MB May 2025                
Illumina DRAGEN MRJD DRAGEN MRJD utility software v1.0 A tar.gz file that includes readme, a python script, an MRJD region bed file, and a test dataset A utility software that replaces the DRAGEN Small Variant Caller output in the homology region of the six medically relevant and challenging genes with MRJD caller output 115 KB                

Illumina DRAGEN scRNA, CRISPR, scATAC

Illumina DRAGEN Bulk RNA

Gene annotation files collection v1.0

Versions of GTF gene annotations downloaded from https://www.gencodegenes.org/ for use with the corresponding genome assembly: hg38, hg19, hs37d5, hs37d5-chr, hg38-mm39

Each  annotation contains the comprehensive gene annotation on the reference chromosomes only (excluding scaffolds, assembly patches and alternate loci).

Gene annotation input used for validation and benchmarking of the indicated version of DRAGEN software.

gencode_hs37d5_chr.v19.annotation.gtf tested for bulk RNA pipeline

gencode.hg38_v44.mm39_vM30.annotation.gtf.gz tested for  scRNA pipeline only

gencode.v44.annotation.gtf.gz,  gencode.v19.annotation.gtf  tested for all pipelines.

You may use a different annotation on an "as needed" basis at your discretion (eg, different assemblies or species).

283 MB May 2025 For earlier versions, contact Illumina Technical Support.
Illumina DRAGEN Population Haplotyping  hg38 Genetic Map v2.0 Genetic map for autosomes and chr X, Genetic map configuration file
To be used with the Population Haplotyping tool to phase population datasets and infer haplotypes. The output builds a reference panel that can be used for Imputation. 22.4 MB Jul 2023            
Illumina DRAGEN Imputation  Imputation Reference Panel-IRPv2.1 Reference panel, genetic map, configuration files, and variant sites files  This reference panel contains autosomes and chrX, multiallelic SNPs, Indels, ~ 125M variants  20 GB June 2024        

2

2

Imputation Reference Panel-IRPv2.0 This reference panel contains autosomes and chrX, multiallelic SNPs, Indels (<3% AF removed), ~ 110M variants  18.5 GB Jan 2024        

2

2

Imputation Reference Panel-IRPv1.2 This reference panel contains autosomes, bi-allelic SNPs, ~ 50M variants  8.2 GB Jul 2023        
Illumina DRAGEN Hash Table Builder CHM13-v2 Custom Multigenome Reference Collection v1.1.0 FASTA reference files, mask .bed files, graph .bed files

To be used only to build a custom multigenome reference for DRAGEN v.4.0, DRAGEN v.4.1 and DRAGEN v4.2.

Note: The DRAGEN multigenome reference cannot be reconstructed with these resource files.

1.1 GB Jul 2023                
hg19 Custom Multigenome Reference Collection v1.1.0 1.0 GB Jul 2023                
hg38 Custom Multigenome Reference Collection v1.1.0 1.0 GB Jul 2023                
hs37d5 Custom Multigenome Reference Collection v1.1.0 968 MB Jul 2023                
hg19 Custom Multigenome Reference Collection v1.0.0 3.2 GB Jul 2023              
hg38 Custom Multigenome Reference Collection v1.0.0 3.2 GB Jul 2023              
hs37d5 Custom Multigenome Reference Collection v1.0.0 3.2 GB Jul 2023              
Illumina DRAGEN ORA compression ORA Compression Reference files for human data  Reference and index files Compression with optimized DRAGEN ORA (v3.10 or later)- regular human data 2 GB Mar 2022      
ORA Compression Reference files for human data Compression of regular human data 1.5 GB Apr 2021  
ORA Compression Reference files for human bisulfite data  Compression of human bisulfite data (methylated DNA use case) 5 GB June 2024              

ORA Compression Reference All species V2.0

Database with all species supported, V2 adds the Duck reference vs. the previous version Refer to the following rows to download specific species resource files 27 GB May 2025              
          3.7 3.8 3.9 3.10 4.0 4.1 4.2 4.3 4.4
ORA Compression Reference files for pig data Sus scrofa 2 GB                
ORA Compression Reference files for chicken data Gallus gallus  986 MB                
ORA Compression Reference files for rice data Oryza sativa  315 MB                
ORA Compression Reference files for arabidopsis data Arabidopsis thaliana  110 MB                
ORA Compression Reference files for wheat data Triticum aestivum 6.2 GB                
ORA Compression Reference files for cattle data Bos taurus 2 GB                
ORA Compression Reference files for soybean data Glycine max 685 MB                
ORA Compression Reference files for rat data Rattus norvegicus 2 GB                
ORA Compression Reference files for maize data Zea may 1 GB                
ORA Compression Reference files for zebrafish data Danio rerio 1.2 GB                
ORA Compression Reference files for mouse data Mus musculus 2 GB                
ORA Compression Reference files for roundworm data Caenorhabditis elegans 92 MB                
ORA Compression Reference files for duck data Cairina moschata 1.0 GB                

1—Included in the DRAGEN installer

2—Compatible with DRAGEN v4.0 and v4.1 but there is no imputation on chX

S—Available for the somatic pipeline

S and G—Available for the somatic and germline pipelines