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ORVAL: Oligogenic Resource for Variant AnaLysis
A platform for the prediction and exploration of candidate disease-causing oligogenic variant combinations
Submit and filter your variants
Submit a variant list of a single individual (VCF or tab-delimited list) and filter your variants based on their Minor Allele Frequency (MAF), their position in the gene and/or based on a specific gene panel of your choice.
Predict candidate pathogenic combinations
Predict or prioritize candidate pathogenic combinations of variants in any gene pair with VarCoPP or HOP and further predict their digenic effect (True Digenic, Monogenic with a Modifier variant or Dual Diagnosis) with the Digenic Effect Predictor.
Explore oligogenic signatures
Investigate potential oligogenic disease signatures by exploring the predicted gene networks and examine them in the context of their pathways, protein-protein interactions and cellular locations.
NOTE: This platform is based on predictive tools.
It is provided for research,
educational and informational purposes only and the pathogenicity predictions should be subject to further research and clinical investigation.
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.