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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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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: Renaux, Alexandre, Papadimitriou, Sofia, Versbraegen, Nassim, Nachtegael, Charlotte, Boutry, Simon, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Acesso em linha: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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