Projects per year
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 with visualization techniques, offering 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. ORVAL is the first web-based exploration platform dedicated to identifying networks of candidate pathogenic variant combinations with the sole ambition to help in uncovering oligogenic causes for patients that cannot rely on the classical disease analysis tools. ORVAL is available at https://orval.ibsquare.be.
Original language | English |
---|---|
Article number | gkz437 |
Pages (from-to) | W93–W98 |
Number of pages | 6 |
Journal | Nucleic Acids Research |
Volume | 47 |
Issue number | W1 |
DOIs | |
Publication status | Published - 31 May 2019 |
Bibliographical note
© The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research.Fingerprint
Dive into the research topics of 'ORVAL : a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations'. Together they form a unique fingerprint.Projects
- 2 Finished
-
IRP8_a: IMAGica: an Integrative personalised Medical Approach for Genetic diseases, Inherited Cardiac Arrhythmias as a model
Nowe, A., Bonduelle, M., Brugada, P., Deschepper, R., Lenaerts, T., Van Dooren, S., De Asmundis, C., Gidron, Y., Bilsen, J. & De Couck, M.
1/07/16 → 30/06/23
Project: Fundamental
-
EUFEDER1: ICITY-RDI.BRU project
Innovatie en Valorisatie, V., Vicerector, V. O., Haesen, S., Vranken, W., Touhafi, A., Macharis, C., Hadavi, S., Nowe, A., De Troyer, O., Verbeke, W. & Signer, B.
1/01/14 → 31/12/23
Project: Fundamental
-
F1000Prime recommendation of ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations. Expert comment from Monkol Lek (Yale School of Medicine, New Haven, CT, USA.)
Renaux, A., 18 Jul 2019, 1 p.Research output: Other contribution
-
Towards oligogenic disease prediction with ORVAL: a web-platform to uncover pathogenic variant combinations
Renaux, A., 23 Jul 2019.Research output: Unpublished contribution to conference › Poster
Activities
- 3 Talk or presentation at a conference
-
Deciphering oligogenic diseases with ORVAL
Alexandre Renaux (Speaker)
6 Mar 2020Activity: Talk or presentation › Talk or presentation at a conference
-
Towards oligogenic disease prediction with ORVAL: a web-platform to uncover pathogenic variant combinations
Alexandre Renaux (Speaker)
24 Jul 2019Activity: Talk or presentation › Talk or presentation at a conference
-
Flash talk - Towards oligogenic disease prediction with ORVAL: a web-platform to uncover pathogenic variant combinations
Alexandre Renaux (Speaker)
21 Jul 2019Activity: Talk or presentation › Talk or presentation at a conference