Noise Baselines

SNV Systematic Noise Files

In somatic variant calling mode, systematic noise filter can be used to remove systematic noise observed in normal samples. Using this filter is essential for tumor-only and is recommended for tumor-normal mode. A systematic noise file can be generated by running the somatic TO pipeline on normal samples. We recommend using a systematic noise file based on normal samples that match the library prep of the tumor samples. For more details please look at DRAGEN Variant Calling user guide Alternately, a set of prebuilt SNV systematic noise BED files can be downloaded from the DRAGEN Software Support Site page

AssayLibrary Prep#SamplesSample typeCoverageSystematic Noise File NameComments

WGS

mixed

40

FF

70x

WGS_hg38_v2.0.0_systematic_noise.snv.bed.gz

can be used for FF

WGS

IDPF

46

PBMC,BMA

200x

IDPF_WGS_hg38_v.2.0.0_systematic_noise.snv.bed.gz

can be used for heme

WGS

TruSeq PCR

42

FFPE

100x

FFPE_WGS_hg38_v2.0.0_systematic_noise.snv.bed.gz

can be used for FFPE

WES

mixed

60

mix FF & FFPE

100x

WES_hg38_v2.0.0_systematic_noise.snv.bed.gz

can be used for FF, FFPE

SNV Systematic Noise File Compatibility

Below is the table summarizing the compatibility of different SNV baseline noise versions and different DRAGEN major versions (from DRAGEN 3.7 to DRAGEN 4.3).

SNV Systematic Noise Version3.73.83.93.104.04.14.24.3

v2.0.0

v1.1.0

v1.0.0

SV Systematic Noise Files

When DRAGEN-SV is used in the somatic mode (tumor-only or tumor-normal), a BEDPE file with a set of paired-end regions in the BEDPE file format can be specified to filter out sequencing/systematic noise and also recurrent germline calls. The systematic noise BEDPE file is built using VCFs that were generated by the DRAGEN-SV tumor-only pipeline when run on normal samples that do not necessarily match to the subject the tumor sample was taken from. The file might contain several dozen samples. For more details please look at DRAGEN SV user guide. A set of prebuilt SV systematic noise BEDPE files can be downloaded from the DRAGEN Software Support Site page

AssayLibrary Prep#SamplesSample typeCoverageSystematic Noise File NameComments

WGS

TruSeq PCR Free

100

1kg cell lines

30x

WGS_hg38_v3.0.0_systematic_noise.sv.bedpe.gz

can be used for FF, FFPE

WGS

TruSeq PCR Free

100

1kg cell lines

30x

WGS_hg19_v3.0.0_systematic_noise.sv.bedpe.gz

can be used for FF, FFPE

WGS

TruSeq PCR Free

100

1kg cell lines

30x

WGS_hs37d5_v3.0.0_systematic_noise.sv.bedpe.gz

can be used for FF, FFPE

WGS

IDPF

46

PBMC, BMA

200x

IDPF_WGS_hg38_v3.0.0_systematic_noise.sv.bedpe.gz

can be used for heme

WES/panels

untested

SV Systematic Noise File Compatibility

Below is the table summarizing the compatibility of different SV baseline noise versions and different DRAGEN major versions (from DRAGEN 3.7 to DRAGEN 4.3).

SV Systematic Noise Version3.73.83.93.104.04.14.24.3

v3.0.0

v2.0.0

v1.0.0

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