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Manual
Manual
Sample Management
Analyses
Results
Filters
Reporting
Quality Control
Legal
Germline Variant Classification
General
Variant Interpretation
FAQ
Filters
General
User Interface
Pipelines
In silico algorithms
Troubleshooting
Pricing
Features in development
For Partners
VarSome API
ClinVar
Features
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VarSome Help Center
Manual
Manual
Sample Management
Analyses
Results
Filters
Reporting
Quality Control
Legal
Germline Variant Classification
General
Variant Interpretation
FAQ
Filters
General
User Interface
Pipelines
In silico algorithms
Troubleshooting
Pricing
Features in development
For Partners
VarSome API
ClinVar
Features
Manual
Step-by-step instructions for VarSome Clinical and description of all its features.
Publications related to variants
Introduction
Device description
Sample Management
Data Upload
Sample tags
Illumina BaseSpace Integration
Analyses
CNV/SV annotation (from VCF)
CNV/SV analysis sensitive mode
Analysis Tokens
Accepted input files
Requirements for submitted VCF files
Launch new analysis
Launching sub-analysis
Merging analyses
Custom transcript for annotation
CNV calling analysis
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Results
How can I inspect my analysis results on more than one monitors?
Dashboard
Variant table
Analysis Actions menu
Custom Variant Classifications
Import of classifications and comments
Sample cross-referencing
Phenotype Matching
CNV visualization
Sample View
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Filters
Dynamic filters
Filter sets
Gene lists
Algorithmic filters
Segregating variants analysis
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Reporting
Variant Selection
Report Template Setup
Clinical Report Generation
Report files to download
Coverage report for captured regions
Region list coverage report
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Quality Control
User Messages - FASTQ and alignment QC
Quality Control Report
FastQC Report
Audit Trail
Legal
Annex I – ISO 13485
Annex II – CE-IVD Declaration of conformity
Annex III - HIPAA Compliance Statement
Annex IV - IVD Italy
Annex V - Hébergeur de Données de Santé (HDS)
Annex VI - ISO 27001
Annex VII - STAR Registry Listing for VarSome Clinical
Annex VIII - AgID Italy
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