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VarSome Help Center
FAQ
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 and billing
For Partners
VarSome API
ClinVar
Features
FAQ
Answers for frequently asked questions from users and clients.
VCF attributes explained
CNV Quality Control: tools and guidelines
CNV calling with WES or targeted panel data
How could a common variant be classified as pathogenic?
What are the different ways to activate 2 Factor Authentication?
I do not receive the SMS code for the Two Factor Authentication. What happened?
Filters
How can I filter my results by Frequency or Pathogenicity ?
How can I filter out artefacts from my samples?
General
Why is my variant not found?
Tumor Mutational Burden (TMB)
Pseudogenes
Why is the variant annotation different on VarSome and VarSome Clinical?
How does VarSome's throttling work?
How can I link a publication to a variant?
Mitochondrial genome versions
How can I access the premium resources offered by VarSome Premium?
What are the requirements for the trial period of VarSome Clinical?
What is ClinVar class?
Why are variants identified in a single strand considered as artifacts, in particular when using amplicon kits?
Variant sorting
Variant Sharing Program
Phasing
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User Interface
Investigating exon coverage
Adding an assay to VarSome Clinical
How can I quickly check the coverage for a specific exon of a given transcript or gene?
How can I apply algorithmic filters on my analysis?
Downloading variant annotation data
Assay missing in the list
How to use Publications Timeline visualization
Why do the clinical cards not change when I select one variant?
How can I launch an analysis of several independent samples?
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Pipelines
Hemizygous Variants
How is frequency calculated for CNV calls?
Why can't I use a gene list analysis for CNV calling?
Is there a minimum length of CNVs that can be detected by the CNV calling pipeline ?
Variant calling local reassembly
Joint calling
Variant calling and quality filters
Targeted/Untargeted Calling on VarSome Clinical
Splicing variants
Validation of VCF files
iSeq Adapter Trimming
Agilent OneSeq
Alignment and Calling
How are the variants identified?
How are pipelines validated?
Which reference genome is being used to align the reads?
Why does the position of some indels reported not match the position of the indels reported by ExAC/Gnomad?
How can I validate my laboratory pipeline and bioinformatics results?
Can I reuse a standard set of control samples to call CNVs?
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In silico algorithms
Is CADD available in the VarSome suite?
What is the meaning of the MutationTaster Score and the MutationTaster Predictions?
Troubleshooting
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