ORVAL (Oligogenic Resource for Variant Analysis) is a tool that allows  the exploration of predicted candidate disease-causing variant combinations, aiming to aid in uncovering the causes of oligogenic diseases . This web-based platform integrates the machine learning pathogenicity predictor VarCoPP, applying it to any possible variant combination in a set of variants provided by the user. The results page offers several interactive and exploratory tools, such as pathogenic gene and protein interaction networks, a ranking of pathogenic gene pairs, as well as visual mappings of the cellular location and pathway information. As such, it allows the user to identify networks of candidate pathogenic variants. Additionally, a contribution analysis of the pathogenicity prediction and a prediction of the Digenic Effect Predictor allow to explore single variant combinations in detail.

 

This platform was realised at the Interuniversity Institute of Bioinformatics in Brussels, a collaborative bioinformatics research initiative between Université Libre de Bruxelles (ULB) and Vrije Universiteit Brussel (VUB).