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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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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: Dong, Shengcheng, Boyle, Alan P.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
Fag:
Online adgang: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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