Submit your variants
You can provide a variant list of one individual for your analysis, either with a tab-separated variant list or a VCF file. For a correct analysis, you also have to provide the sex information about the patient (i.e. male/female), if this information is available. If you would like to run cohorts/trios, you can contact us.
ORVAL can analyse single nucleotide variants and small insertions/deletions in the format of the GRCh37/hg19 genome assembly.
You can consult our Input Data documentation for clarifications on how to correctly upload your data, the Data Filtering documentation on how your variants can be filtered or excluded, and the Data Annotation documentation for details on how ORVAL annotates your data.
NOTE1: At the moment ORVAL is not recommended for the analysis of complete patient exomes, due to the amount of False Positives that will be obtained. We highly recommend you to restrict your analysis to relevant gene panels for the disease of interest.
If your VCF/variant list contains the complete exome of an individual, you can still upload it in ORVAL and use the Variant Filtering and Gene Filtering options on this page before submitting your data.
NOTE2: Splicing and intronic variants are currently missing from the database. A general data and annotation update with the latest releases of the annotation features is coming soon (check the Updates page), where this issue is resolved.
If you are using ORVAL for your analysis, see how to cite us here.