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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...
Autores principales: | Renaux, Alexandre, Papadimitriou, Sofia, Versbraegen, Nassim, Nachtegael, Charlotte, Boutry, Simon, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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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 |
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