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Predicting functional variants in enhancer and promoter elements using RegulomeDB

Here we present a computational model, SURF (Score of Unified Regulatory Features), that predicts functional variants in enhancer and promoter elements. SURF is trained on data from massively parallel reporter assays and predicts the effect of variants on reporter expression levels. It achieved the...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Dong, Shengcheng, Boyle, Alan P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744346/
https://ncbi.nlm.nih.gov/pubmed/31228310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23791
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