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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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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Papadimitriou, Sofia, Gazzo, Andrea, Versbraegen, Nassim, Nachtegael, Charlotte, Aerts, Jan, Moreau, Yves, Van Dooren, Sonia, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2019
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Accesso online: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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