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VarSome API
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VarSome Help Center
FAQ
Manual
Sample Management
Analyses
Results
Filters
Reporting
Quality Control
Legal
ACMG
General
Variant Interpretation
FAQ
Filters
General
User Interface
Pipelines
In silico algorithms
Pricing
Features in development
For Partners
VarSome API
ClinVar
FAQ
Answers for frequently asked questions from users and clients.
VCF attributes explained
Why can't I access my results in VarSome Clinical?
CNV calling with WES or targeted panel data
How could a common variant be classified as pathogenic?
Filters
Identifying samples containing a given variant in VarSome Clinical
How can I change the affected/unaffected status of a sample to run new algorithmic filters?
How can I filter my results by Frequency or Pathogenicity ?
How can I filter my analysis’ results by gene list?
Dynamic filters: 3' and 5' flanks
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General
How can I submit to ClinVar?
Mitochondrial genome versions
How can I link a publication to a variant?
How does VarSome's throttling work?
How can I access the premium resources offered by VarSome Premium?
What are the requirements for the trial period of VarSome Clinical?
Why is the variant annotation different on VarSome and VarSome Clinical?
Pseudogenes
Why is my variant not found?
What is ClinVar class?
Which precautions should be taken when using NGS to investigate the cause of a genetic disease?
Why are variants identified in a single strand considered as artifacts, in particular when using amplicon kits?
What is allelic balance?
Variant sorting
Drug related resources
Variant Sharing Program
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User Interface
Sequencing assay selection
Adding an assay to VarSome Clinical
How can I reuse a sample for a new analysis?
How can I share a filter set with other users of my group?
How is zygosity represented for large cohort analyses ?
How can I check the quality/average coverage etc of my input sample?
How can I quickly check the coverage for a specific exon of a given transcript or gene?
Clinical Trials
Downloading variant annotation data
Whole Genome Analysis
Assay missing in the list
How can I see the reads supporting a variant?
How can I apply algorithmic filters on my analysis?
Investigating exon coverage
ClinVar tabs
Is it possible to filter using OMIM terms?
How can I rename a sample?
PharmGKB
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Pipelines
How is frequency calculated for CNV calls?
Targeted/Untargeted Calling on VarSome Clinical
iSeq Adapter Trimming
Joint calling
Why can't I use a gene list analysis for CNV calling?
UMIs for Swift Biosciences
Validation of VCF files
Agilent OneSeq
Hemizygous Variants
Splicing Annotation
Alignment and Calling
How are the variants identified?
Call status and Quality filters
How are pipelines validated?
Which are the integrated databases ?
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?
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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?
