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Introduction
- The concept of Biomedical Genomics Analysis
- System requirements
- Contact information
Getting started
- Data import and export
- Import sequencing data
- Prepare raw data
Reference data management
- QIAGEN Sets
UMI tools
- Remove and Annotate with Unique Molecular Index
- Calculate Unique Molecular Index Groups
- Create UMI Reads from Grouped Reads
- Create UMI Reads from Reads
- Create UMI Reads for miRNA
- Annotate Variants with Unique Molecular Index Info
QIAseq tools
- Quantify QIAseq RNA
- QC for RNAscan Panels
- Annotate Fusions with Known Fusion Information
- Validate QIAseq Read Structure (beta)
  - Output from Validate QIAseq Read Structure (beta)
Biomedical utility tools
- Annotate Structural Variants
- Extract Reads Matching Primers
- Identify Mispriming Events
  - Output from Identify Mispriming Events
- Remove Ligation Artifacts
- Trim Primers of Mapped Reads
- Convert Annotation Track Coordinates
Immune repertoire analysis
- Import/Export VDJtools Clonotypes
- Import Immune Reference Segments
- Immune Repertoire Analysis
  - Output from the Immune Repertoire Analysis tool
- Filter Immune Repertoire
- Compare Immune Repertoires
  - Output from Compare Immune Repertoires tool
- Clonotypes
- Clonotype Sample Comparison
Oncology score estimation
- Calculate TMB Score
- Detect MSI Status
- Generate MSI Baseline
- Calculate HRD Score (beta)
QCI Interpret integration
- Prepare QCI Interpret Upload
- Upload Prepared QCI Interpret Report
- Upload to QCI Interpret
Haplotype Calling (beta)
- Genotype track
- Microhaplotype Caller (beta)
  - Output from Microhaplotype Caller (beta)
- Convert to Genotype Track (beta)
- Import VCF to Genotype Track (beta)
- Export Genotype VCF (beta)
- Export Genotype CSV (beta)
- Export Marker Genotypes (beta)
General tools
- Annotate RNA Variants
  - Import Known Fusion Information Track
- Detect Regional Ploidy
  - Output from Detect Regional Ploidy
- Import Gene-Pseudogene Table
- Prepare Guidance Variant Track
- Refine Read Mapping
- Structural Variant Caller
  - Output from the Structural Variant Caller
- Targeted Methyl associated tools
- Trim Primers and their Dimers from Mapping
Batching workflows
QIAseq sample analysis
- The Analyze QIAseq Samples guide
- How to create a custom sample analysis workflow
  - Import QIAGEN Primers
- Create a custom Trim adapter list (optional)
  - UMI group sizes
QIAseq DNA workflows
- Create QIAseq DNA CNV Control Mapping
  - Output from the Create QIAseq DNA CNV Control Samples workflow
- Detect QIAseq MSI Status
  - Output of the Detect QIAseq MSI Status workflow
- Detect MSI Status with Baseline Creation
- Identify QIAseq DNA Variants
- Identify QIAseq DNA Pro Somatic Variants with LOH Detection
  - Output from the Calculate LOH workflow
- Identify QIAseq DNA Somatic Variants with TMB Score
  - Output from the Identify TMB Status workflow
- Identify QIAseq DNA Ultra Somatic Variants
- Exome and xHYB template workflows
- Create QIAseq Exome CNV Control Mapping
  - Output from the Create QIAseq Exome CNV Control Mapping workflow
- Identify QIAseq Exome Causal Inherited Variants in Trio
  - Output from the Identify QIAseq Exome Causal Inherited Variants in Trio template workflow
- Identify QIAseq Exome Germline Variants
  - Output from the Identify QIAseq Exome Germline Variants template workflow
- Identify QIAseq xHYB Germline Variants
  - Identify QIAseq xHYB Germline Variants including Mitochondrial
- Identify QIAseq xHYB Somatic Variants
  - Identify QIAseq xHYB Somatic Variants including Mitochondrial
- Detect QIAseq Human Identity SNPs and Microhaplotypes (beta)
QIAseq RNA workflows
- Detect QIAseq RNAscan Fusions
  - Output from the Detect QIAseq RNAscan Fusions workflow
- Perform QIAseq RNA Fusion XP Analysis
  - Output from the Perform QIAseq RNA Fusion XP Analysis workflow
- Interpretation of fusion results
- Perform QIAseq FastSelect RNA Expression and Fusion Calling (N6-T RT + ODT-RT primer)
  - Output from the Perform QIAseq FastSelect RNA Expression and Fusion Calling (N6-T RT + ODT-RT primer) workflow
- Perform QIAseq FastSelect Rna Expression and Fusion Calling (N6-T RT primer)
  - Output for the Perform QIAseq FastSelect RNA Expression and Fusion Calling (N6-T RT primer) workflow
- Perform QIAseq FastSelect RNA Gene Expression (ODT-RT primer)
  - Output from the Perform QIAseq FastSelect RNA Gene Expression (ODT-RT primer) workflow
- Detect Wells for UPXome
- Demultiplex QIAseq UPXome Reads
  - Running the QIAseq UPXome workflows
- Perform QIAseq UPXome RNA Expression and Fusion Calling (N6-T RT + ODT-RT primer)
  - Output from the Perform QIAseq UPXome RNA Expression and Fusion Calling (N6-T RT + ODT-RT primer) workflow
- Perform QIAseq UPXome Rna Expression and Fusion Calling (N6-T RT primer)
  - Output for the Perform QIAseq UPXome RNA Expression and Fusion Calling (N6-T RT primer) workflow
- Perform QIAseq UPXome RNA Gene Expression (ODT-RT primer)
  - Output from the Perform QIAseq UPXome RNA Gene Expression (ODT-RT primer) workflow
- QIAseq miRNA Differential Expression
- QIAseq miRNA Quantification
  - QIAseq miRNA Quantification outputs
- Quantify QIAseq RNA Expression
  - Output from the Quantify QIAseq RNA Expression workflow
- Demultiplex QIAseq UPX 3' Reads
- Quantify QIAseq UPX 3'
  - Output from the Quantify QIAseq UPX 3' workflow
Other QIAseq workflows
- Detect QIAseq Methylation
  - Output from the Detect QIAseq Methylation workflow
- Perform QIAseq Immune Repertoire Analysis
  - Output from the Perform QIAseq Immune Repertoire Analysis workflow
- Perform QIAseq Multimodal Analysis
  - Output from the Perform QIAseq Multimodal Analysis (Illumina)
- Perform QIAseq Multimodal Analysis with TMB and MSI
  - Output from the Perform QIAseq Multimodal Analysis with TMB and MSI (Illumina)
- Running multimodal workflows in batch using Metadata
SARS-CoV-2 workflows
- Identify ARTIC V3 SARS-CoV-2 Low Frequency and Shared Variants (Illumina)
- Identify QIAseq SARS-CoV-2 Low Frequency and Shared Variants (Illumina)
- Identify Ion AmpliSeq SARS-CoV-2 Low Frequency and Shared Variants (Ion Torrent)
- SARS-CoV-2 workflow output
  - Summary outputs
  - Sample specific outputs
TruSight Oncology 500
- Perform TSO500 DNA Analysis
  - Output from Perform TSO500 DNA Analysis
- Perform TSO500 RNA Analysis
  - Output from Perform TSO500 RNA Analysis
WGS, WES, TAS and WTS template workflow descriptions
- General workflows
- Somatic cancer
- Hereditary disease
Whole genome sequencing (WGS)
- General Workflows (WGS)
  - Annotate Variants (WGS)
  - Identify Known Variants in One Sample (WGS)
- Somatic Cancer (WGS)
- Hereditary Disease (WGS)
  - Filter Causal Variants (WGS-HD)
  - Identify Variants (WGS-HD)
Whole exome sequencing (WES)
- General Workflows (WES)
- Somatic Cancer (WES)
- Hereditary Disease (WES)
Targeted amplicon sequencing (TAS)
- General Workflows (TAS)
  - Annotate Variants (TAS)
  - Identify Known Variants in One Sample (TAS)
- Somatic Cancer (TAS)
- Hereditary Disease (TAS)
- QIAGEN GeneRead Panel Analysis
  - Output from the QIAGEN GeneRead Panel Analysis
Whole transcriptome sequencing (WTS)
- Annotate Variants (WTS)
- Compare Variants in DNA and RNA
- Identify Candidate Variants and Genes from Tumor Normal Pair
- Identify Variants and Add Expression Values
- Identify and Annotate Differentially Expressed Genes and Pathways
Appendices
- Install and uninstall plugins
  - Installation of plugins
  - Uninstalling plugins
Bibliography

Output from Compare Immune Repertoires tool

Two outputs can be generated by the tool:

Clonotype Sample Comparison (), containing the clonotypes from each sample, see Clonotype Sample Comparison for more details.
Compare Immune Repertoires (CIR) report (). A report containing comparisons of repertoire properties.

CIR Report

The report contains the following sections:

Summary. A summary table showing, for each input, the total number of clonotyped fragments, as well as the clonotyped fragments from each chain type. A fragment represents one single read or a pair of reads.

The remaining information in the report is give per chain type and only for those chain types for which clonotypes have been identified for at least two of the inputs.

Diversity indices. A table showing the diversity metrics 'Observed diversity', 'Extrapolated diversity (chaoE)' and 'Extrapolated Shannon-Wiener index (chaoE)', see Output from the Immune Repertoire Analysis tool. Additionally, the table contains the diversity metric 'Interpolated to lowest sample diversity', showing an estimate of the diversity if all the inputs had the same number of clonotyped fragments as the input with the lowest number of clonotyped fragments.
Scatter plots. If exactly two inputs are compared, this section will contain scatter plots with the clonotypes frequency in the two inputs. The Clonotype Sample Comparison () can display the scatter plot for any two inputs at a time, see Scatter Plot For Sample Comparison for more details.
Rarefaction. A plot with rarefaction curves, also known as species accumulation curve. See Rarefaction For Clonotype Sample Comparison for more details.
CDR3 length. A table comparing CDR3 length summary statistics for the different inputs, across all chains. For each chain type, the CDR3 length distribution is also shown as a histogram, see CDR3 Lengths For Clonotype Sample Comparison for more details.
V, D, J and C usage. Bar plots showing the V, D, J and C segment usage for each input. See Segment Usage For Clonotype Sample Comparison for more details.