ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.

ABSTRACT: A tremendous amount of DNA sequencing data is being produced around the world with the ambition to capture in more detail the mechanisms underlying human diseases. While numerous bioinformatics tools exist that allow the discovery of causal variants in Mendelian diseases, little to no support is provided to do the same for variant combinations, an essential task for the discovery of the causes of oligogenic diseases. ORVAL (the Oligogenic Resource for Variant AnaLysis), which is presented here, provides an answer to this problem by focusing on generating networks of candidate pathogenic variant combinations in gene pairs, as opposed to isolated variants in unique genes. This online platform integrates innovative machine learning methods for combinatorial variant pathogenicity prediction wi

SUBMITTER: Renaux A 

PROVIDER: S-EPMC6602484 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature