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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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Vydáno v:Nucleic Acids Res
Hlavní autoři: Renaux, Alexandre, Papadimitriou, Sofia, Versbraegen, Nassim, Nachtegael, Charlotte, Boutry, Simon, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6602484/
https://ncbi.nlm.nih.gov/pubmed/31147699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz437
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