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FAQ & Troubleshooting
Answers for frequently asked questions from users and clients. Provide solution to known issues
Troubleshooting
General
- Pseudogenes
- Mitochondrial genome versions
- How can I link a publication to a variant?
- Which assays with UMIs are supported by VarSome?
- What are the requirements for the trial period of VarSome Clinical?
- Variant Sharing Program
- Phasing
- How to recalculate variants in phase that are called separately?
- Initiating VarSome Clinical Workflows with FASTQ vs. VCF Files
- Understanding VarSome Query Limits
Filters
User Interface
- Sequencing assay selection
- Investigating exon coverage
- Why do the clinical cards not change when I select one variant?
- How can I launch an analysis of several independent samples?
- Adding an assay to VarSome Clinical
- How can I quickly check the coverage for a specific exon of a given transcript or gene?
- Downloading variant annotation data
Pipelines
- Alignment and Calling
- Which reference genome is being used to align the reads?
- Targeted/Untargeted Calling on VarSome Clinical
- How can I validate my laboratory pipeline and bioinformatics results?
- Variant calling and quality filters
- Can I reuse a standard set of control samples to call CNVs?
- How is frequency calculated for CNV calls?
- Variant calling local reassembly
- Is there a minimum length of CNVs that can be detected by the CNV calling pipeline?
- Splicing variants
- Joint calling