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

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 pro...

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Detalles Bibliográficos
Autores principales: Renaux, Alexandre, Papadimitriou, Sofia, Versbraegen, Nassim, Nachtegael, Charlotte, Boutry, Simon, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602484/
https://www.ncbi.nlm.nih.gov/pubmed/31147699
http://dx.doi.org/10.1093/nar/gkz437