Submit your variants
Provide variants of one individual.
It is important to specify the gender of this individual, if known. ORVAL treats differently X-linked variants in males.
Submit variants either as a variant list or a VCF file.
ORVAL can analyse single nucleotide variants and small insertions/deletions.
Select the correct genome assembly (GRCh38/hg38 or GRCh37/hg19).
If you upload a VCF from a whole exome analysis, select a relevant gene panel of up to 300-400 genes.
You can filter your variant list/VCF file with a gene panel automatically in this page.
IMPORTANT NOTE: ORVAL is NOT designed to be used for a whole exome analysis, as the huge number of combinations that you will obtain may impede the detection of any True Positive results. If you attempt to run an analysis with a whole exome, your job may fail.
If you are using ORVAL for your analysis, see how to cite us here.