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Predicting disease-causing variant combinations

Notwithstanding important advances in the context of single-variant pathogenicity identification, novel breakthroughs in discerning the origins of many rare diseases require methods able to identify more complex genetic models. We present here the Variant Combinations Pathogenicity Predictor (VarCoP...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Papadimitriou, Sofia, Gazzo, Andrea, Versbraegen, Nassim, Nachtegael, Charlotte, Aerts, Jan, Moreau, Yves, Van Dooren, Sonia, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6575632/
https://ncbi.nlm.nih.gov/pubmed/31127050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1815601116
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