Analysis Output

When the analysis run completes, the DRAGEN TruSight Oncology 500 ctDNA Analysis Software generates an analysis output folder in a specified location.

To view analysis output, navigate to the analysis output folder and select the files that you want to view.

Analysis Output Folder Structure

Single output folder structure is as follows.

  • Logs_Intermediates

    • AdditionalSarjMetrics

    • Annotation—Contains outputs for small variant annotation.

      • Subfolders per sample ID—Contains the aligned small variants JSON.

    • CombinedVariantOutput

      • Subfolders per sample ID—Contains the combined variant output TSV files.

      • A combined output log file.

    • Contamination

      • Subfolders per sample ID—Contains the contamination metrics JSON file and output logs.

    • CoverageReports

    • DnaFusionFiltering

    • DragenCaller

      • Subfolders per sample ID—Contains the aligned BAM and index files, small variant VCF and gVCF, copy number variant VCF, MSI JSON, exon coverage report bed, and QC outputs in CSV format.

    • FastqValidation—Contains the FASTQ validation output log for the samples.

    • FastqGeneration

    • MetricsOutput

      • Subfolders per sample ID—Contains the metrics output TSV files.

      • A combined output log file.

    • ResourceVerification—Contains the resource file checksum verification logs.

    • Run QC—Contains the Run QC metrics JSON, Intermediate Run QC metrics JSON, and log file.

    • SampleAnalysisResults

      • Subfolders per sample ID—Contains the Sample Analysis Results JSON and detailed log file.

    • SampleSheetValidation—Contains the Intermediate sample sheet and validation log.

    • Passing Sample Steps - JSON file that contains the steps passed for each Sample ID

    • Tmb

      • Subfolders per sample ID—Contains the TMB metrics CSV, TMB trace TSV, and related files and logs. pipeline_trace.txt—Contains a summary and troubleshooting file that lists each Nextflow task executed and the status (for example, COMPLETED or FAILED). run.log—Contains a complete trace-level log file describing the Nextflow pipeline execution. run_report.html—Contains high-level run statistics (performance, usage, etc.) run_timeline.html —Contains timeline-related information about the analysis run.

  • Results

    • Metrics Output TSV (all Sample IDs)

    • Sample ID—The following outputs are produced for each sample:

      • Combined Variant Output TSV

      • Metrics Output TSV

      • TMB Trace TSV

      • Small Variant Genome VCF

      • Small Variant VCF

      • Small Variant Annotated JSON

      • Copy Number Variant VCF

      • MSI JSON

      • Fusions CSV

      • Exon Coverage Report TSV

      • Gene Coverage Report TSV

ICA Output Folder Structure

This section describes each output folder generated during analysis and where to find metric and analytic files when the pipeline is executed. The same output folder structure and content exist in ICA and BaseSpace Sequence Hub.

High-Level Folder Structure

  • Run ID

    • TSO500_Nextflow_logs

    • _manifest.json

    • Results

      • _tags.json

    • Logs_intermediates

    • Errors—This folder is only present when analysis fails

TSO500_Nextflow_logs Folder Structure

The TSO_500_Nextflow_Logs provides information related to the execution of the pipeline on ICA as a whole and for specific nodes (when an analysis is split across multiple nodes). It contains files used to execute parts of the workflow on different nodes as well as records of the nextflow execution on those nodes.

  • TSO_500_Nextflow_Logs

    • _manifest.json

Results Folder Structure

Contains the aggregated MetricsOutput.tsv file at the root level. Additionally, the Results folder contains a subfolder for each sample ID.

  • Results

    • MetricsOutput.tsv

    • Sample_1

    • Sample_2

    • Sample_<#>

The Results subfolder contains the following files:

  • Results

    • MetricsOutput.tsv

    • <Sample_id>

      • CombinedVariantOutput.tsv

      • Fusions.csv

      • tmb.trace.tsv

      • hard-filtered.gvcf

      • hard-filtered.vcf

      • SmallVariants_Annotated.json.gz

      • cnv.vcf

      • exon_cov_report.tsv

      • gene_cov_report.tsv

      • MetricsOutput.tsv

      • microsat_output.json

Logs_intermediates Folder Structure

Contains folders for each submodule in the DRAGEN TSO 500 ctDNA on ICA pipeline. The folders contain a copy of all the relevant files required to create the metric output files and report files, as well as the combined log files at the root level and subfolders for each sample.

  • Logs_intermediates

    • AdditionalSarjMetrics

    • Annotation

    • CombinedVariantOutput

    • Contamination

    • CoverageReports

    • DnaFusionFiltering

    • DragenCaller

    • FastqValidation

    • FastqGeneration

    • MetricsOutput

    • PassingSampleSteps

    • ResourceVerification

    • Run QC

    • SampleAnalysisResults

    • SampleSheetValidation

    • Tmb

All logs in Logs_Intermediates are generated from the running analysis software. Inputs to the running Docker container (for example, the run folder, sample sheet, and FASTQ folder) are mapped from native locations on the server to the following locations in the container:

Input
Running Docker Container Location

Run folder

/opt/illumina/run-folder

Sample sheet

/opt/illumina/SampleSheet.csv

FASTQ folder

/opt/illumina/fastq-folder

Resources

/opt/illumina/resources

Analysis output folder

/opt/illumina/analysis-folder

The paths in the log messages refer to paths within the running docker container, not paths on the server.

Errors Folder Structure

Contains Errors.tsv. This file contains the summary of all the errors encountered during pipeline execution.

  • Errors

    • Errors.tsv

NovaSeq 6000Dx Analysis Application Output Folder Structure

The following files and folders are created during analysis by NovaSeq 6000Dx Analysis Application:

  • analysisResults.json

  • CopyComplete.txt

  • edgeos.nextflow.config

  • inputs/

    • sampleMapping.json

    • SampleSheet.csv

    • SampleSheet.json

  • Logs_Intermediates

  • Manifest.tsv

  • params.json

  • Results/

  • workflowLogs/

    • nf-main-***.log

When the analysis run completes, the analysis application generates an analysis output in a specified location. To view analysis output, follow the steps below:

  1. On the “Completed” runs tab, select the run

  2. Review the run details page, and this will give the information to access the output folder

  3. External Location: is the input for the run

  4. Analysis Output Folder: is where the output is stored. To navigate to this page, follow the “server location” and the gds analysis output folder

  5. Navigate to the directory that contains the analysis output folder

  6. Open the folder, and then select the files that you want to view

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