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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
Features
FAQ
Answers for frequently asked questions from users and clients.
CNV Quality Control: tools and guidelines
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
How can I filter out artefacts from my samples?
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 link a publication to a variant?
Pseudogenes
Tumor Mutational Burden (TMB)
Mitochondrial genome versions
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?
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
Downloading variant annotation data
How can I apply algorithmic filters on my analysis?
Adding an assay to VarSome Clinical
How can I reuse a sample for a new analysis?
Sequencing assay selection
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
Whole Genome Analysis
Assay missing in the list
How can I see the reads supporting a variant?
Investigating exon coverage
ClinVar tabs
Is it possible to filter using OMIM terms?
How can I rename a sample?
PharmGKB
How to use Publications Timeline visualization
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Pipelines
Variant calling local reassembly
Splicing variants
Targeted/Untargeted Calling on VarSome Clinical
Joint calling
How is frequency calculated for CNV calls?
iSeq Adapter Trimming
Why can't I use a gene list analysis for CNV calling?
UMIs for Swift Biosciences
Validation of VCF files
Agilent OneSeq
Hemizygous Variants
Alignment and Calling
How are the variants identified?
Variant calling 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?
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?
